Variant report

Variant	rs12088164
Chromosome Location	chr1:145383227-145383228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:407)
CpG islands
(count:0)
Chromatin interactive
region (count:145)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:145382169-145383390	GM12878	blood:	n/a	n/a
2	MAZ	chr1:145382239-145383321	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:145382248-145383391	GM12878	blood:	n/a	n/a
4	EBF1	chr1:145382675-145383377	GM12878	blood:	n/a	n/a
5	BCL3	chr1:145382689-145383238	GM12878	blood:	n/a	chr1:145382725-145382738 chr1:145382725-145382738
6	CEBPB	chr1:145382534-145383295	A549	lung:	n/a	n/a
7	SIN3AK20	chr1:145382019-145383446	MCF-7	breast:	n/a	n/a
8	TBL1XR1	chr1:145381969-145383509	K562	blood:	n/a	n/a
9	POLR2A	chr1:145382185-145383546	GM12878	blood:	n/a	n/a
10	ELK1	chr1:145382081-145383426	K562	blood:	n/a	n/a
11	RXRA	chr1:145382484-145383251	GM12878	blood:	n/a	n/a
12	CREB1	chr1:145382063-145383387	HepG2	liver:	n/a	chr1:145382499-145382512
13	NR2F2	chr1:145382678-145383524	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:145382218-145383318	Gliobla	brain:	n/a	n/a
15	SIN3AK20	chr1:145382016-145383367	MCF-7	breast:	n/a	n/a
16	POLR2A	chr1:145381928-145383477	K562	blood:	n/a	n/a
17	ATF3	chr1:145382543-145383238	A549	lung:	n/a	n/a
18	MBD4	chr1:145382566-145383306	HepG2	liver:	n/a	n/a
19	PML	chr1:145381883-145383466	K562	blood:	n/a	n/a
20	BCL3	chr1:145382097-145383534	K562	blood:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
21	GATA2	chr1:145382714-145383295	HUVEC	blood vessel:	n/a	chr1:145383166-145383175 chr1:145383159-145383180 chr1:145383166-145383173 chr1:145383166-145383173 chr1:145383162-145383178 chr1:145383165-145383175 chr1:145383166-145383173
22	MAX	chr1:145382227-145383288	ECC-1	luminal epithelium:	n/a	n/a
23	TEAD4	chr1:145382552-145383359	ECC-1	luminal epithelium:	n/a	n/a
24	GATA3	chr1:145382557-145383281	T-47D	breast:	n/a	chr1:145383166-145383175 chr1:145383159-145383180 chr1:145383166-145383173 chr1:145383166-145383173 chr1:145383162-145383178 chr1:145383165-145383175 chr1:145383166-145383173
25	POLR2A	chr1:145382034-145383441	K562	blood:	n/a	n/a
26	FOSL2	chr1:145382693-145383301	SK-N-SH	brain:	n/a	n/a
27	TCF7L2	chr1:145382327-145383324	Hela-S3	cervix:	n/a	n/a
28	FOSL2	chr1:145382640-145383469	MCF-7	breast:	n/a	n/a
29	YY1	chr1:145383180-145383363	K562	blood:	n/a	n/a
30	POLR2A	chr1:145381939-145383522	K562	blood:	n/a	n/a
31	ETS1	chr1:145382676-145383239	A549	lung:	n/a	n/a
32	POLR2A	chr1:145382083-145383419	HCT-116	colon:	n/a	n/a
33	POLR2A	chr1:145382166-145383438	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:145382283-145383313	GM12878	blood:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
35	TCF12	chr1:145382327-145383238	GM12878	blood:	n/a	n/a
36	BCLAF1	chr1:145382199-145383434	GM12878	blood:	n/a	chr1:145382434-145382447 chr1:145382433-145382446 chr1:145382657-145382670 chr1:145382725-145382738 chr1:145382599-145382612 chr1:145382725-145382738
37	SRF	chr1:145382564-145383374	HCT-116	colon:	n/a	chr1:145382850-145382868
38	SIN3AK20	chr1:145382227-145383253	A549	lung:	n/a	n/a
39	CBX3	chr1:145382684-145383342	HCT-116	colon:	n/a	n/a
40	EP300	chr1:145382393-145383229	HepG2	liver:	n/a	chr1:145383164-145383178 chr1:145382400-145382414
41	FOSL2	chr1:145382529-145383248	A549	lung:	n/a	n/a
42	MYC	chr1:145382211-145383420	K562	blood:	n/a	n/a
43	POLR2A	chr1:145382165-145383467	GM18526	blood:	n/a	n/a
44	ELF1	chr1:145382559-145383254	A549	lung:	n/a	n/a
45	POLR2A	chr1:145382084-145383401	K562	blood:	n/a	n/a
46	ZNF217	chr1:145382689-145383260	MCF-7	breast:	n/a	n/a
47	TAF7	chr1:145382065-145383476	H1-hESC	embryonic stem cell:	n/a	n/a
48	NFIC	chr1:145382664-145383315	ECC-1	luminal epithelium:	n/a	n/a
49	TAL1	chr1:145381953-145384119	K562	blood:	n/a	chr1:145383165-145383173
50	ELF1	chr1:145382288-145383417	GM12878	blood:	n/a	chr1:145382398-145382411

No data

(count:145 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:145382926..145383504-chr19:47729334..47729896,2	Hela-S3	cervix:
2	chr1:145382677..145383441-chr10:14646054..14646616,2	Hela-S3	cervix:
3	chr1:145382630..145383534-chr16:21964404..21965403,2	Hela-S3	cervix:
4	chr1:145382485..145383376-chr7:132767032..132767863,2	Hela-S3	cervix:
5	chr1:145290091..145292740-chr1:145382337..145384639,2	MCF-7	breast:
6	chr1:145382599..145383425-chr12:48213442..48214824,3	Hela-S3	cervix:
7	chr1:145382719..145383404-chr19:34286528..34287234,2	Hela-S3	cervix:
8	chr1:145379178..145384447-chr1:149221650..149226208,18	MCF-7	breast:
9	chr1:145382999..145384586-chr17:49230281..49232351,2	MCF-7	breast:
10	chr1:145380937..145386297-chr1:145506337..145510366,6	MCF-7	breast:
11	chr1:145138455..145140955-chr1:145381729..145384293,2	MCF-7	breast:
12	chr1:145381739..145384542-chr1:145435430..145438721,5	MCF-7	breast:
13	chr1:145382909..145383542-chr3:5020677..5021614,3	Hela-S3	cervix:
14	chr1:145382389..145383237-chr12:6861982..6862697,2	Hela-S3	cervix:
15	chr1:145382485..145383278-chr15:69744971..69745811,2	Hela-S3	cervix:
16	chr1:145383009..145383562-chr8:61564478..61565027,2	Hela-S3	cervix:
17	chr1:145377352..145378949-chr1:145381369..145383840,2	K562	blood:
18	chr1:145382870..145383817-chr7:104653601..104654239,2	Hela-S3	cervix:
19	chr1:145381529..145386275-chr1:145468516..145473558,10	K562	blood:
20	chr1:145382766..145384634-chr20:46418172..46420741,2	MCF-7	breast:
21	chr1:145381421..145384908-chr1:145408929..145417696,14	MCF-7	breast:
22	chr1:145381926..145385386-chr1:145586664..145591054,3	K562	blood:
23	chr1:144929695..144933397-chr1:145381616..145384279,4	MCF-7	breast:
24	chr1:145380635..145383784-chr1:145725921..145729985,3	MCF-7	breast:
25	chr1:145382892..145385742-chr1:145548741..145550331,2	MCF-7	breast:
26	chr1:145380580..145384081-chr1:149221277..149226175,12	K562	blood:
27	chr1:145382867..145383383-chr20:30779032..30779623,2	MCF-7	breast:
28	chr1:145383004..145383538-chr12:6446006..6446510,2	Hela-S3	cervix:
29	chr1:145381488..145384463-chr1:173835687..173838502,2	K562	blood:
30	chr1:145381325..145384752-chr1:145468281..145472411,8	MCF-7	breast:
31	chr1:145382934..145384561-chr1:145541431..145543797,2	MCF-7	breast:
32	chr1:144993854..144995667-chr1:145381995..145384401,2	K562	blood:
33	chr1:145382651..145383456-chr16:56965706..56966315,2	Hela-S3	cervix:
34	chr1:36851173..36851900-chr1:145382309..145383265,2	HCT-116	colon:
35	chr1:145381192..145384213-chr1:145513953..145517883,5	K562	blood:
36	chr1:145382568..145383227-chr15:89877596..89878435,3	Hela-S3	cervix:
37	chr1:145380917..145384078-chr1:149220729..149225559,7	MCF-7	breast:
38	chr1:145381585..145384365-chr1:145541631..145545070,3	K562	blood:
39	chr1:145382760..145383508-chr6:150184436..150185435,2	HCT-116	colon:
40	chr1:145382677..145383535-chr17:27070558..27071276,3	Hela-S3	cervix:
41	chr1:145382446..145383291-chr15:81292671..81293445,2	Hela-S3	cervix:
42	chr1:145381729..145384072-chr11:61557897..61559864,2	MCF-7	breast:
43	chr1:145381466..145384269-chr1:145514221..145517320,3	K562	blood:
44	chr1:145382865..145384662-chr5:177632094..177634177,2	MCF-7	breast:
45	chr1:145381407..145384364-chr17:56734913..56736729,3	MCF-7	breast:
46	chr1:145382447..145383240-chrX:55187047..55187879,2	Hela-S3	cervix:
47	chr1:145208214..145210170-chr1:145381446..145384467,3	MCF-7	breast:
48	chr1:145382710..145383446-chr12:7071536..7072474,2	NB4	blood:
49	chr1:145379807..145384578-chr1:149221277..149226175,8	K562	blood:
50	chr1:145382727..145383425-chr12:27090890..27091496,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000233396	TF binding region
ENSG00000168509	Chromatin interaction
ENSG00000117289	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000111790	Chromatin interaction
ENSG00000181039	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000177989	Chromatin interaction
ENSG00000198483	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000076685	Chromatin interaction
ENSG00000203684	Chromatin interaction
ENSG00000254837	Chromatin interaction
ENSG00000198353	Chromatin interaction
ENSG00000196182	Chromatin interaction
ENSG00000178104	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000076604	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000073417	Chromatin interaction
ENSG00000213240	Chromatin interaction
ENSG00000243678	Chromatin interaction
ENSG00000257084	Chromatin interaction
ENSG00000100490	Chromatin interaction
ENSG00000186364	Chromatin interaction
ENSG00000087191	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000239672	Chromatin interaction
ENSG00000131788	Chromatin interaction
ENSG00000064102	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000186141	Chromatin interaction
ENSG00000272189	Chromatin interaction
ENSG00000268592	Chromatin interaction
ENSG00000267598	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000177144	Chromatin interaction
ENSG00000121851	Chromatin interaction
ENSG00000183617	Chromatin interaction
ENSG00000078124	Chromatin interaction
ENSG00000159459	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000134107	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000198900	Chromatin interaction
ENSG00000255168	Chromatin interaction
ENSG00000137818	Chromatin interaction
ENSG00000234222	Chromatin interaction
ENSG00000258857	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000121940	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000174827	Chromatin interaction
ENSG00000204842	Chromatin interaction
ENSG00000272393	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000207501	Chromatin interaction
ENSG00000182518	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000175536	Chromatin interaction
ENSG00000034152	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000199879	Chromatin interaction
ENSG00000140740	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000131795	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000153885	Chromatin interaction
ENSG00000168894	Chromatin interaction
ENSG00000065809	Chromatin interaction
ENSG00000011052	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000223501	Chromatin interaction
ENSG00000263811	Chromatin interaction
ENSG00000126749	Chromatin interaction
ENSG00000089902	Chromatin interaction
ENSG00000121848	Chromatin interaction
ENSG00000261441	Chromatin interaction
ENSG00000069869	Chromatin interaction
ENSG00000120256	Chromatin interaction
ENSG00000077150	Chromatin interaction
ENSG00000131779	Chromatin interaction
ENSG00000165879	Chromatin interaction
ENSG00000108384	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000140406	Chromatin interaction
ENSG00000258099	Chromatin interaction
ENSG00000037474	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000108592	Chromatin interaction
ENSG00000271546	Chromatin interaction
ENSG00000253508	Chromatin interaction
ENSG00000134825	Chromatin interaction
ENSG00000184205	Chromatin interaction
ENSG00000272933	Chromatin interaction
ENSG00000244619	Chromatin interaction
ENSG00000211451	Chromatin interaction
ENSG00000051108	Chromatin interaction
ENSG00000152022	Chromatin interaction
ENSG00000140521	Chromatin interaction
ENSG00000113916	Chromatin interaction
ENSG00000089693	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000121101	Chromatin interaction
ENSG00000162641	Chromatin interaction
ENSG00000125844	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000051341	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10218795	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12059935	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12086156	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12088906	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12088956	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12091337	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12091564	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16827051	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16827081	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6667334	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72701855	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72701859	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74119639	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7526224	0.81[ASN][1000 genomes]
rs7551245	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7551884	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005055	chr1:144893406-145792052	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
2	esv1822839	chr1:144902232-145393578	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	266 gene(s)	inside rSNPs	diseases
3	esv1826561	chr1:144902232-145393578	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	266 gene(s)	inside rSNPs	diseases
4	esv1849727	chr1:144902232-145393578	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	266 gene(s)	inside rSNPs	diseases
5	nsv1003688	chr1:144949963-145398179	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	257 gene(s)	inside rSNPs	diseases
6	nsv432720	chr1:144956393-145727683	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
7	nsv998771	chr1:144986365-145687024	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	362 gene(s)	inside rSNPs	diseases
8	nsv535079	chr1:144986365-145687024	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	362 gene(s)	inside rSNPs	diseases
9	nsv933296	chr1:144994945-145740657	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	359 gene(s)	inside rSNPs	diseases
10	nsv427752	chr1:145057218-145483353	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	307 gene(s)	inside rSNPs	diseases
11	nsv1000082	chr1:145081821-145687024	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	347 gene(s)	inside rSNPs	diseases
12	nsv535081	chr1:145081821-145687024	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	347 gene(s)	inside rSNPs	diseases
13	esv1824820	chr1:145086810-145393578	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	233 gene(s)	inside rSNPs	diseases
14	nsv998789	chr1:145100386-145406787	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	226 gene(s)	inside rSNPs	diseases
15	nsv1013638	chr1:145172973-146012524	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
16	esv1828621	chr1:145176656-145393578	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	215 gene(s)	inside rSNPs	diseases
17	nsv831337	chr1:145189320-145393470	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	215 gene(s)	inside rSNPs	diseases
18	esv1850672	chr1:145192018-145384023	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	213 gene(s)	inside rSNPs	diseases
19	esv1846276	chr1:145197749-145384335	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	213 gene(s)	inside rSNPs	diseases
20	esv1816073	chr1:145197749-145388977	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	215 gene(s)	inside rSNPs	diseases
21	esv2422428	chr1:145259792-145609308	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
22	nsv2677	chr1:145260675-145392668	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
23	nsv1002731	chr1:145276259-145792052	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	327 gene(s)	inside rSNPs	diseases
24	nsv508582	chr1:145285203-145387361	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
25	nsv946260	chr1:145289780-145384172	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	209 gene(s)	inside rSNPs	diseases
26	nsv831359	chr1:145290956-145451472	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	248 gene(s)	inside rSNPs	diseases
27	nsv532247	chr1:145291698-146037042	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
28	esv1804782	chr1:145292223-145387936	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
29	esv1805421	chr1:145293280-145385586	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
30	nsv433348	chr1:145294531-145385675	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
31	nsv872223	chr1:145294531-145394955	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	211 gene(s)	inside rSNPs	diseases
32	nsv532393	chr1:145304668-145738275	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	325 gene(s)	inside rSNPs	diseases
33	nsv511125	chr1:145310197-145394955	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	210 gene(s)	inside rSNPs	diseases
34	nsv532248	chr1:145310253-145899398	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
35	nsv872224	chr1:145341400-145900678	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
36	nsv948894	chr1:145366695-145727683	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
37	nsv432731	chr1:145366956-145727956	Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
38	nsv872225	chr1:145367196-145900678	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
39	nsv918206	chr1:145372550-145792052	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
40	nsv918131	chr1:145372550-146012524	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
41	nsv1007296	chr1:145372551-145792052	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
42	nsv917908	chr1:145372551-145932457	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases
43	esv2761653	chr1:145382124-145932468	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	329 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12088164	NOTCH2NL	cis	Esophagus Muscularis	GTEx
rs12088164	NOTCH2NL	cis	lung	GTEx
rs12088164	NOTCH2NL	cis	Whole Blood	GTEx
rs12088164	RP11-458D21.1	cis	Artery Tibial	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145381400-145383400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:145381400-145383400	Active TSS	Brain Angular Gyrus	brain
3	chr1:145381400-145383400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:145381600-145383400	Active TSS	Brain Anterior Caudate	brain
5	chr1:145381600-145383400	Active TSS	Fetal Lung	lung
6	chr1:145381600-145383400	Active TSS	NHEK	skin
7	chr1:145381600-145383800	Active TSS	HepG2	liver
8	chr1:145381800-145383400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:145381800-145383400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:145381800-145383400	Active TSS	Stomach Smooth Muscle	stomach
11	chr1:145381800-145383600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:145382000-145383400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:145382000-145383400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:145382000-145383400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:145382000-145383400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr1:145382000-145383400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:145382000-145383400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:145382000-145383400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:145382000-145383400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:145382000-145383400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr1:145382000-145383400	Active TSS	GM12878-XiMat	blood
22	chr1:145382000-145384000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:145382000-145384800	Active TSS	A549	lung
24	chr1:145382200-145383400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:145382200-145383400	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:145382200-145383400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:145382200-145383400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:145382200-145383400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr1:145382200-145383400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:145382200-145383400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:145382200-145383400	Active TSS	Brain Hippocampus Middle	brain
32	chr1:145382200-145383400	Active TSS	Left Ventricle	heart
33	chr1:145382200-145383400	Active TSS	Rectal Smooth Muscle	rectum
34	chr1:145382200-145383400	Active TSS	NHDF-Ad	bronchial
35	chr1:145382400-145383400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:145382400-145383400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr1:145382400-145383400	Active TSS	Psoas Muscle	Psoas
38	chr1:145382400-145383400	Active TSS	Osteobl	bone
39	chr1:145382600-145383400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:145382600-145383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:145382600-145383600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:145382800-145383400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:145382800-145383400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr1:145382800-145383400	Flanking Active TSS	Liver	Liver
45	chr1:145382800-145383400	Flanking Active TSS	Fetal Thymus	thymus
46	chr1:145382800-145384800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:145382800-145390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:145383000-145383400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr1:145383000-145383400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:145383000-145383400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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