Variant report

Variant	rs4970850
Chromosome Location	chr1:145507253-145507254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:310)
CpG islands
(count:61)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr1:145506755-145508313	MCF-7	breast:	n/a	n/a
2	REST	chr1:145507121-145508136	HL-60	blood:	n/a	n/a
3	WRNIP1	chr1:145507173-145508627	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:145507223-145507816	K562	blood:	n/a	n/a
5	POLR2A	chr1:145506794-145508380	PFSK-1	brain:	n/a	n/a
6	CHD2	chr1:145507234-145508043	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr1:145507139-145508110	HUVEC	blood vessel:	n/a	n/a
8	CREB1	chr1:145507165-145508129	HepG2	liver:	n/a	n/a
9	PML	chr1:145507041-145508115	K562	blood:	n/a	n/a
10	YY1	chr1:145507122-145507943	K562	blood:	n/a	n/a
11	HEY1	chr1:145507107-145507970	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:145507188-145508306	ProgFib	skin:	n/a	n/a
13	POLR2A	chr1:145506391-145507957	GM12891	blood:	n/a	n/a
14	MAX	chr1:145507223-145508170	HepG2	liver:	n/a	n/a
15	CREB1	chr1:145507223-145508060	GM12878	blood:	n/a	n/a
16	SP1	chr1:145507252-145507863	HepG2	liver:	n/a	chr1:145507510-145507521 chr1:145507543-145507554
17	ZBTB33	chr1:145507234-145507779	HCT-116	colon:	n/a	n/a
18	REST	chr1:145507224-145507569	A549	lung:	n/a	n/a
19	EGR1	chr1:145507187-145507979	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr1:145507180-145508014	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:145507054-145508266	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr1:145506595-145508051	Raji	blood:	n/a	n/a
23	YY1	chr1:145507173-145507933	NT2-D1	testis:	n/a	n/a
24	RELA	chr1:145507198-145508152	GM15510	blood:	n/a	n/a
25	SIX5	chr1:145507139-145508223	A549	lung:	n/a	n/a
26	MAX	chr1:145507078-145508123	SK-N-SH	brain:	n/a	n/a
27	ZC3H11A	chr1:145507145-145507960	K562	blood:	n/a	n/a
28	BCLAF1	chr1:145507007-145507952	GM12878	blood:	n/a	n/a
29	SP1	chr1:145507055-145508121	HCT-116	colon:	n/a	chr1:145507510-145507521 chr1:145507543-145507554
30	SP1	chr1:145507095-145508193	HCT-116	colon:	n/a	chr1:145507510-145507521 chr1:145507543-145507554
31	FOSL2	chr1:145507101-145508081	A549	lung:	n/a	n/a
32	POLR2A	chr1:145507170-145508305	K562	blood:	n/a	n/a
33	POLR2A	chr1:145507174-145508045	GM12878	blood:	n/a	n/a
34	CEBPB	chr1:145507144-145508054	GM12878	blood:	n/a	n/a
35	MYC	chr1:145507244-145508064	NB4	blood:	n/a	n/a
36	POLR2A	chr1:145507175-145508079	K562	blood:	n/a	n/a
37	MAX	chr1:145506978-145508231	MCF-7	breast:	n/a	n/a
38	GABPA	chr1:145507192-145507771	HL-60	blood:	n/a	n/a
39	RCOR1	chr1:145507143-145507920	GM12878	blood:	n/a	n/a
40	ETS1	chr1:145507253-145507744	GM12878	blood:	n/a	n/a
41	YY1	chr1:145507049-145508271	GM12878	blood:	n/a	n/a
42	TAF1	chr1:145506966-145508287	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr1:145507092-145507983	A549	lung:	n/a	n/a
44	POLR2A	chr1:145506893-145508207	HUVEC	blood vessel:	n/a	n/a
45	TAF1	chr1:145507238-145507919	GM12892	blood:	n/a	n/a
46	PML	chr1:145507054-145508064	K562	blood:	n/a	n/a
47	ELF1	chr1:145506864-145508135	MCF-7	breast:	n/a	n/a
48	CHD1	chr1:145507008-145507957	GM12878	blood:	n/a	n/a
49	SP1	chr1:145507099-145508097	A549	lung:	n/a	chr1:145507510-145507521 chr1:145507543-145507554
50	MYBL2	chr1:145507011-145508016	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145507220-145507270	SK-N-SH_RA	brain:	n/a
2	chr1:145507220-145507270	PrEC	prostate:	n/a
3	chr1:145507220-145507270	HEEpiC	esophagus:	n/a
4	chr1:145507220-145507270	GM19239	blood:	n/a
5	chr1:145507220-145507270	HL-60	blood:	n/a
6	chr1:145507220-145507270	CMK	blood:	n/a
7	chr1:145507220-145507270	GM06990	blood:	n/a
8	chr1:145507220-145507270	Hela-S3	cervix:	n/a
9	chr1:145507220-145507270	GM12892	blood:	n/a
10	chr1:145507220-145507270	AG04450	lung:	fetal
11	chr1:145507220-145507270	Hepatocyte	liver:	n/a
12	chr1:145507220-145507270	K562	blood:	n/a
13	chr1:145507220-145507270	ProgFib	skin:	n/a
14	chr1:145507220-145507270	HMEC	breast:	n/a
15	chr1:145507220-145507270	HEK293	kidney:	embryo
16	chr1:145507220-145507270	PANC-1	pancreas:	n/a
17	chr1:145507220-145507270	AG04449	skin:	fetal
18	chr1:145507220-145507270	SK-N-MC	brain:	n/a
19	chr1:145507220-145507270	HCF	heart:	n/a
20	chr1:145507220-145507270	HCM	heart:	n/a
21	chr1:145507220-145507270	NHDF-neo	bronchial:	n/a
22	chr1:145507220-145507270	RPTEC	kidney:	n/a
23	chr1:145507220-145507270	NH-A	brain:	n/a
24	chr1:145507220-145507270	AoSMC	blood vessel:	n/a
25	chr1:145507220-145507270	HRPEpiC	eye:	n/a
26	chr1:145507220-145507270	NHBE	bronchial:	n/a
27	chr1:145507220-145507270	SK-N-SH	brain:	n/a
28	chr1:145507220-145507270	AG09309	skin:	n/a
29	chr1:145507220-145507270	IMR90	lung:	fetal
30	chr1:145507220-145507270	HCT-116	colon:	n/a
31	chr1:145507220-145507270	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:145507220-145507270	HRE	kidney:	n/a
33	chr1:145507220-145507270	ovcar-3	ovarian:	n/a
34	chr1:145507220-145507270	HepG2	liver:	n/a
35	chr1:145507220-145507270	AG10803	skin:	n/a
36	chr1:145507220-145507270	NT2-D1	testis:	n/a
37	chr1:145507220-145507270	HAEpiC	amniotic membrane:	n/a
38	chr1:145507220-145507270	U87	brain:	n/a
39	chr1:145507220-145507270	ECC-1	luminal epithelium:	n/a
40	chr1:145507220-145507270	HUVEC	blood vessel:	n/a
41	chr1:145507220-145507270	GM12878	blood:	n/a
42	chr1:145507220-145507270	MCF-7	breast:	n/a
43	chr1:145507220-145507270	T-47D	breast:	n/a
44	chr1:145507220-145507270	Caco-2	colon:	n/a
45	chr1:145507220-145507270	HNPCEpiC	eye:	n/a
46	chr1:145507220-145507270	AG09319	gingival:	n/a
47	chr1:145507220-145507270	HCPEpiC	choroid plexus:	n/a
48	chr1:145507220-145507270	H1-hESC	embryonic stem cell:	embryo
49	chr1:145507220-145507270	PFSK-1	brain:	n/a
50	chr1:145507220-145507270	HRCEpiC	kidney:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145507058..145507754-chr3:9834144..9834982,2	Hela-S3	cervix:
2	chr1:145504994..145509071-chr1:145573936..145577350,5	K562	blood:
3	chr1:145470185..145470905-chr1:145507082..145507596,2	MCF-7	breast:
4	chr1:145435330..145439919-chr1:145503470..145509114,6	MCF-7	breast:
5	chr1:145506288..145509580-chr1:145587874..145591202,3	K562	blood:
6	chr1:145436895..145441140-chr1:145504711..145508916,4	K562	blood:
7	chr1:145506720..145507656-chr2:151343322..151343968,2	Hela-S3	cervix:
8	chr1:145468632..145473669-chr1:145505743..145509110,22	MCF-7	breast:
9	chr1:145474833..145479924-chr1:145501554..145508897,13	MCF-7	breast:
10	chr1:145380937..145386297-chr1:145506337..145510366,6	MCF-7	breast:
11	chr1:145506288..145507887-chr1:145587874..145590549,2	K562	blood:
12	chr1:145440246..145445618-chr1:145506865..145509081,5	MCF-7	breast:
13	chr1:145475515..145478637-chr1:145505981..145508969,5	K562	blood:
14	chr1:145506238..145508483-chr20:52209033..52210545,2	MCF-7	breast:
15	chr1:145507172..145507876-chr7:148637786..148638655,2	Hela-S3	cervix:
16	chr1:145380733..145384556-chr1:145505855..145508677,5	MCF-7	breast:
17	chr1:145474024..145477479-chr1:145506133..145509448,3	K562	blood:
18	chr1:145506866..145509017-chr1:145610582..145612345,2	MCF-7	breast:
19	chr1:145467554..145481966-chr1:145501054..145522102,70	MCF-7	breast:
20	chr1:145490788..145493914-chr1:145504744..145507405,3	MCF-7	breast:
21	chr1:145506973..145507728-chr6:150070463..150070969,2	NB4	blood:
22	chr1:145469135..145471440-chr1:145505996..145509042,5	K562	blood:
23	chr1:145506038..145509641-chr1:145574245..145576920,6	K562	blood:
24	chr1:145381491..145385233-chr1:145505736..145509112,5	K562	blood:
25	chr1:145438818..145442266-chr1:145506169..145508690,3	MCF-7	breast:
26	chr1:145504895..145507513-chr1:150292334..150294058,2	MCF-7	breast:
27	chr1:145506283..145508491-chr1:145609392..145611580,4	MCF-7	breast:

No data

Variant related genes	Relation type
RBM8A	TF binding region
RBM8A	CpG island
ENSG00000252310	Chromatin interaction
ENSG00000121851	Chromatin interaction
ENSG00000250151	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000186364	Chromatin interaction
ENSG00000131788	Chromatin interaction
ENSG00000171148	Chromatin interaction
ENSG00000241553	Chromatin interaction
ENSG00000120265	Chromatin interaction
ENSG00000181039	Chromatin interaction
ENSG00000121848	Chromatin interaction
ENSG00000152022	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000115963	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000186141	Chromatin interaction
ENSG00000120253	Chromatin interaction
ENSG00000117289	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000234222	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10218795	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs10910821	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12027482	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12059935	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs12091337	1.00[CEU][hapmap]
rs12091564	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs16827051	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs16827081	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs2479855	0.82[ASN][1000 genomes]
rs4126494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap]
rs704984	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap];0.84[ASN][1000 genomes]
rs704986	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap]
rs7211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap]
rs7212	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs7551245	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs833941	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs833943	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	nsv547654	chr1:145384225-145747463	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
24	nsv872227	chr1:145385675-145509312	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
25	nsv872228	chr1:145385675-145598459	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription 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	125 gene(s)	inside rSNPs	diseases
26	nsv872229	chr1:145385675-145771576	Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers 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	144 gene(s)	inside rSNPs	diseases
27	nsv872230	chr1:145385675-145789110	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
28	nsv547655	chr1:145388137-145730160	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
29	nsv532396	chr1:145388355-145746971	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
30	nsv532400	chr1:145388355-145799602	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
31	nsv532399	chr1:145388355-145825847	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
32	nsv532398	chr1:145388355-145917640	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
33	nsv917018	chr1:145388369-145899418	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
34	nsv1001857	chr1:145388977-145743966	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
35	nsv997343	chr1:145388977-145746709	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
36	nsv535083	chr1:145388977-145746709	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
37	nsv1006753	chr1:145391749-145792052	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
38	nsv872231	chr1:145394955-145598459	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
39	nsv463417	chr1:145394955-145681484	Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
40	nsv547656	chr1:145394955-145681484	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
41	nsv463428	chr1:145394955-145747463	Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
42	nsv463439	chr1:145394955-145747463	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
43	nsv547657	chr1:145394955-145747463	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
44	nsv547658	chr1:145394955-145776593	Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
45	nsv547659	chr1:145394955-145780243	Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
46	nsv432742	chr1:145395604-145727956	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
47	nsv1011556	chr1:145399902-145743966	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer 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	137 gene(s)	inside rSNPs	diseases
48	nsv1004250	chr1:145399902-145746709	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
49	esv2830397	chr1:145401238-145799743	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
50	nsv831370	chr1:145401253-145606187	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4970850	NOTCH2NL	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145499400-145507600	Weak transcription	Spleen	Spleen
2	chr1:145506200-145508000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:145506400-145508200	Active TSS	Hela-S3	cervix
4	chr1:145506400-145508400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:145506600-145507400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:145506600-145507400	Flanking Active TSS	Fetal Brain Male	brain
7	chr1:145506600-145508200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:145506600-145508200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:145506600-145508200	Active TSS	Osteobl	bone
10	chr1:145506600-145508400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:145506600-145508400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:145506600-145508400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:145506600-145508400	Active TSS	A549	lung
14	chr1:145506600-145508400	Active TSS	HSMM	muscle
15	chr1:145506600-145508400	Active TSS	HSMMtube	muscle
16	chr1:145506600-145508400	Active TSS	NHLF	lung
17	chr1:145506800-145507400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr1:145506800-145507400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr1:145506800-145507400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:145506800-145508000	Active TSS	Primary T cells from cord blood	blood
21	chr1:145506800-145508000	Active TSS	Liver	Liver
22	chr1:145506800-145508000	Active TSS	Brain Anterior Caudate	brain
23	chr1:145506800-145508000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr1:145506800-145508000	Active TSS	Brain Substantia Nigra	brain
25	chr1:145506800-145508000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr1:145506800-145508200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:145506800-145508200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr1:145506800-145508200	Active TSS	Brain Angular Gyrus	brain
29	chr1:145506800-145508200	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:145506800-145508200	Active TSS	Brain Hippocampus Middle	brain
31	chr1:145506800-145508200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:145506800-145508200	Active TSS	Duodenum Mucosa	Duodenum
33	chr1:145506800-145508200	Active TSS	Fetal Brain Female	brain
34	chr1:145506800-145508200	Active TSS	Fetal Lung	lung
35	chr1:145506800-145508200	Active TSS	Left Ventricle	heart
36	chr1:145506800-145508200	Active TSS	Right Atrium	heart
37	chr1:145506800-145508200	Active TSS	HUVEC	blood vessel
38	chr1:145506800-145508200	Active TSS	NHEK	skin
39	chr1:145506800-145508400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:145506800-145508400	Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:145506800-145508400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr1:145506800-145508400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:145506800-145508400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:145506800-145508400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr1:145506800-145508400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:145506800-145508400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:145506800-145508400	Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:145506800-145508400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:145506800-145508400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:145506800-145508400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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