Variant report

Variant	rs3121125
Chromosome Location	chr1:145382124-145382125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:0)
Chromatin interactive
region (count:72)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr1:145382019-145383446	MCF-7	breast:	n/a	n/a
2	TBL1XR1	chr1:145381969-145383509	K562	blood:	n/a	n/a
3	TAF1	chr1:145382118-145382614	H1-neurons	neurons:	n/a	n/a
4	ELK1	chr1:145382081-145383426	K562	blood:	n/a	n/a
5	CREB1	chr1:145382063-145383387	HepG2	liver:	n/a	chr1:145382499-145382512
6	SIN3AK20	chr1:145382016-145383367	MCF-7	breast:	n/a	n/a
7	POLR2A	chr1:145381928-145383477	K562	blood:	n/a	n/a
8	PML	chr1:145381883-145383466	K562	blood:	n/a	n/a
9	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
10	POLR2A	chr1:145382034-145383441	K562	blood:	n/a	n/a
11	MAZ	chr1:145382067-145383184	K562	blood:	n/a	n/a
12	POLR2A	chr1:145381939-145383522	K562	blood:	n/a	n/a
13	POLR2A	chr1:145382083-145383419	HCT-116	colon:	n/a	n/a
14	POLR2A	chr1:145382084-145383401	K562	blood:	n/a	n/a
15	TAF7	chr1:145382065-145383476	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAL1	chr1:145381953-145384119	K562	blood:	n/a	chr1:145383165-145383173
17	POLR2A	chr1:145381959-145383563	K562	blood:	n/a	n/a
18	POLR2A	chr1:145381869-145383603	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP4	chr1:145382110-145383213	H1-hESC	embryonic stem cell:	n/a	chr1:145382665-145382676
20	POLR2A	chr1:145381968-145383562	K562	blood:	n/a	n/a
21	GATA3	chr1:145382085-145383535	MCF-7	breast:	n/a	chr1:145383166-145383175 chr1:145383159-145383180 chr1:145383166-145383173 chr1:145383166-145383173 chr1:145383162-145383178 chr1:145383165-145383175 chr1:145383166-145383173
22	HEY1	chr1:145381774-145383610	K562	blood:	n/a	n/a
23	POLR2A	chr1:145382000-145383459	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr1:145382077-145383587	GM12892	blood:	n/a	n/a
25	CEBPB	chr1:145381881-145383466	K562	blood:	n/a	n/a
26	RFX5	chr1:145382076-145383380	K562	blood:	n/a	n/a
27	USF2	chr1:145382050-145382321	K562	blood:	n/a	n/a
28	HCFC1	chr1:145382088-145383292	K562	blood:	n/a	n/a
29	CREB1	chr1:145382095-145382627	GM12878	blood:	n/a	chr1:145382499-145382512
30	CHD2	chr1:145381976-145383485	K562	blood:	n/a	chr1:145382665-145382675
31	REST	chr1:145381966-145383500	H1-neurons	neurons:	n/a	chr1:145382677-145382690
32	POLR2A	chr1:145382094-145383474	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr1:145381950-145383349	SK-N-SH	brain:	n/a	n/a
34	JUN	chr1:145382056-145383246	K562	blood:	n/a	chr1:145382501-145382510
35	TBL1XR1	chr1:145382093-145383312	K562	blood:	n/a	n/a
36	IRF1	chr1:145382123-145383331	K562	blood:	n/a	chr1:145383022-145383035
37	REST	chr1:145382110-145383309	A549	lung:	n/a	chr1:145382677-145382690
38	POLR2A	chr1:145382114-145383554	GM12878	blood:	n/a	n/a
39	CBX3	chr1:145381945-145383282	K562	blood:	n/a	n/a
40	POLR2A	chr1:145381969-145383445	K562	blood:	n/a	n/a
41	POLR2A	chr1:145381931-145383488	K562	blood:	n/a	n/a
42	RCOR1	chr1:145382023-145383440	K562	blood:	n/a	n/a
43	POLR2A	chr1:145382124-145383423	Raji	blood:	n/a	n/a
44	SIN3AK20	chr1:145382105-145383336	SK-N-SH	brain:	n/a	n/a
45	SP1	chr1:145382022-145383395	HCT-116	colon:	n/a	chr1:145382665-145382677 chr1:145382665-145382677 chr1:145382666-145382675 chr1:145382665-145382676 chr1:145382662-145382676
46	SIX5	chr1:145381950-145383535	A549	lung:	n/a	chr1:145382926-145382935
47	ZC3H11A	chr1:145382072-145383196	K562	blood:	n/a	n/a
48	HEY1	chr1:145381823-145383421	K562	blood:	n/a	n/a
49	POLR2A	chr1:145381868-145383552	K562	blood:	n/a	n/a
50	POLR2A	chr1:145381941-145383602	U87	brain:	n/a	n/a

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:145379178..145384447-chr1:149221650..149226208,18	MCF-7	breast:
2	chr1:145380937..145386297-chr1:145506337..145510366,6	MCF-7	breast:
3	chr1:145138455..145140955-chr1:145381729..145384293,2	MCF-7	breast:
4	chr1:145381739..145384542-chr1:145435430..145438721,5	MCF-7	breast:
5	chr1:145377352..145378949-chr1:145381369..145383840,2	K562	blood:
6	chr1:145381529..145386275-chr1:145468516..145473558,10	K562	blood:
7	chr1:145382065..145383019-chr1:154155530..154156311,2	Hela-S3	cervix:
8	chr1:145381421..145384908-chr1:145408929..145417696,14	MCF-7	breast:
9	chr1:145381926..145385386-chr1:145586664..145591054,3	K562	blood:
10	chr1:144929695..144933397-chr1:145381616..145384279,4	MCF-7	breast:
11	chr1:145380635..145383784-chr1:145725921..145729985,3	MCF-7	breast:
12	chr1:145382047..145382776-chr11:57435560..57436541,2	Hela-S3	cervix:
13	chr1:145381607..145383149-chr1:146549334..146552301,2	MCF-7	breast:
14	chr1:145380580..145384081-chr1:149221277..149226175,12	K562	blood:
15	chr1:145382115..145382985-chr4:40058652..40059527,2	Hela-S3	cervix:
16	chr1:145381488..145384463-chr1:173835687..173838502,2	K562	blood:
17	chr1:145381325..145384752-chr1:145468281..145472411,8	MCF-7	breast:
18	chr1:144993854..144995667-chr1:145381995..145384401,2	K562	blood:
19	chr1:145381192..145384213-chr1:145513953..145517883,5	K562	blood:
20	chr1:145380917..145384078-chr1:149220729..149225559,7	MCF-7	breast:
21	chr1:145381585..145384365-chr1:145541631..145545070,3	K562	blood:
22	chr1:145381729..145384072-chr11:61557897..61559864,2	MCF-7	breast:
23	chr1:145381466..145384269-chr1:145514221..145517320,3	K562	blood:
24	chr1:145381407..145384364-chr17:56734913..56736729,3	MCF-7	breast:
25	chr1:145208214..145210170-chr1:145381446..145384467,3	MCF-7	breast:
26	chr1:145381546..145383124-chr11:65189414..65191073,2	MCF-7	breast:
27	chr1:145379807..145384578-chr1:149221277..149226175,8	K562	blood:
28	chr1:145381474..145385320-chr1:145609524..145612680,3	K562	blood:
29	chr1:145137959..145140660-chr1:145381811..145384748,2	K562	blood:
30	chr1:145381186..145383142-chr1:153329584..153331437,2	MCF-7	breast:
31	chr1:145381411..145383817-chr11:65849842..65852203,2	MCF-7	breast:
32	chr1:145381395..145383043-chr6:26157864..26159582,2	MCF-7	breast:
33	chr1:17324687..17326960-chr1:145380781..145383137,2	K562	blood:
34	chr1:145381565..145384248-chr20:17661337..17663594,2	MCF-7	breast:
35	chr1:145381405..145384694-chr1:145511956..145517470,7	MCF-7	breast:
36	chr1:145382062..145382923-chr1:149194189..149194753,3	Hela-S3	cervix:
37	chr1:145381741..145382340-chr15:60689392..60689967,2	Hela-S3	cervix:
38	chr1:145381905..145382698-chr1:155196540..155197297,2	Hela-S3	cervix:
39	chr1:17183995..17186880-chr1:145382064..145384021,2	K562	blood:
40	chr1:145381367..145383804-chr1:145412079..145415677,5	K562	blood:
41	chr1:145381800..145384680-chr2:85821996..85823962,2	MCF-7	breast:
42	chr1:145381301..145383000-chr2:38976945..38978478,2	MCF-7	breast:
43	chr1:145087779..145091493-chr1:145381530..145384517,3	MCF-7	breast:
44	chr1:145381376..145384239-chr17:58601344..58603429,2	MCF-7	breast:
45	chr1:145381438..145386194-chr1:145434088..145442772,20	K562	blood:
46	chr1:145380733..145384556-chr1:145505855..145508677,5	MCF-7	breast:
47	chr1:145381396..145385731-chr1:145572430..145577753,7	K562	blood:
48	chr1:145381557..145383925-chr1:145469387..145471026,2	MCF-7	breast:
49	chr1:145380816..145383250-chr20:55838040..55840941,2	MCF-7	breast:
50	chr1:145374045..145378813-chr1:145381593..145384779,5	MCF-7	breast:

No data

Variant related genes	Relation type
RNVU1-6	TF binding region
ENSG00000233396	TF binding region
ENSG00000168894	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000186141	Chromatin interaction
ENSG00000159363	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000181039	Chromatin interaction
ENSG00000152022	Chromatin interaction
ENSG00000177144	Chromatin interaction
ENSG00000131779	Chromatin interaction
ENSG00000182718	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000234222	Chromatin interaction
ENSG00000186364	Chromatin interaction
ENSG00000069869	Chromatin interaction
ENSG00000205794	Chromatin interaction
ENSG00000108384	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000121848	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000174827	Chromatin interaction
ENSG00000163220	Chromatin interaction
ENSG00000178104	Chromatin interaction
ENSG00000271546	Chromatin interaction
ENSG00000272426	Chromatin interaction
ENSG00000134825	Chromatin interaction
ENSG00000213240	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000117289	Chromatin interaction
ENSG00000255168	Chromatin interaction
ENSG00000201142	Chromatin interaction
ENSG00000121851	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000263811	Chromatin interaction
ENSG00000131788	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000129474	Chromatin interaction
ENSG00000207349	Chromatin interaction
ENSG00000211451	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000131795	Chromatin interaction
ENSG00000121101	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000244619	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000259132	Chromatin interaction
ENSG00000125844	Chromatin interaction
ENSG00000258457	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000168509	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000199879	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10910809	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11590105	1.00[JPT][hapmap]
rs1535921	0.88[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs2479854	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2992020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs2994350	1.00[CEU][hapmap];0.93[CHB][hapmap];0.85[JPT][hapmap]
rs35103913	1.00[JPT][hapmap]
rs4471211	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6661602	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap]
rs704985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7536830	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs7546454	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs9424932	0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:49 , 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	nsv869813	chr1:145181865-145382362	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
18	nsv824442	chr1:145188847-145382690	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	187 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	esv14376	chr1:145286635-145382690	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	183 gene(s)	inside rSNPs	diseases
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	esv1814413	chr1:145295054-145382562	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	157 gene(s)	inside rSNPs	diseases
36	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
37	esv1816278	chr1:145309364-145382362	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
38	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
39	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
40	esv1798604	chr1:145310846-145382362	Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3121125	NBPF9	cis	multi-tissue	Pritchard
rs3121125	NOTCH2NL	cis	lymphoblastoid	seeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145365600-145382200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:145368800-145382200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:145369800-145382400	Weak transcription	Gastric	stomach
4	chr1:145370200-145382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:145380200-145382600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
6	chr1:145381200-145382400	Flanking Active TSS	K562	blood
7	chr1:145381200-145383200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:145381400-145382200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:145381400-145382200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:145381400-145383000	Active TSS	Fetal Brain Female	brain
11	chr1:145381400-145383200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:145381400-145383400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:145381400-145383400	Active TSS	Brain Angular Gyrus	brain
14	chr1:145381400-145383400	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr1:145381600-145382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:145381600-145382200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:145381600-145382200	Weak transcription	Right Ventricle	heart
18	chr1:145381600-145382800	Active TSS	Liver	Liver
19	chr1:145381600-145383200	Active TSS	Brain Germinal Matrix	brain
20	chr1:145381600-145383200	Active TSS	HSMMtube	muscle
21	chr1:145381600-145383400	Active TSS	Brain Anterior Caudate	brain
22	chr1:145381600-145383400	Active TSS	Fetal Lung	lung
23	chr1:145381600-145383400	Active TSS	NHEK	skin
24	chr1:145381600-145383800	Active TSS	HepG2	liver
25	chr1:145381800-145382200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:145381800-145383200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:145381800-145383200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:145381800-145383400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr1:145381800-145383400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr1:145381800-145383400	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:145381800-145383600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:145382000-145382200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:145382000-145382200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:145382000-145382200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:145382000-145382200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:145382000-145382200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:145382000-145382200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr1:145382000-145382200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr1:145382000-145382200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:145382000-145382200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:145382000-145382200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:145382000-145382200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:145382000-145382200	Enhancers	Adipose Nuclei	Adipose
44	chr1:145382000-145382200	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr1:145382000-145382200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:145382000-145382200	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr1:145382000-145382200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
48	chr1:145382000-145382200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
49	chr1:145382000-145382200	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr1:145382000-145382200	Active TSS	Right Atrium	heart

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