Variant report

Variant	rs2296840
Chromosome Location	chr1:151372047-151372048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:511)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:151371646-151372287	K562	blood:	n/a	n/a
2	FOS	chr1:151371851-151372095	MCF10A-Er-Src	breast:	n/a	n/a
3	SPI1	chr1:151371719-151372267	HL-60	blood:	n/a	chr1:151372010-151372019 chr1:151372008-151372021
4	CTCF	chr1:151371791-151372065	Lung_OC	lung:	n/a	n/a
5	EGR1	chr1:151371722-151372276	ECC-1	luminal epithelium:	n/a	chr1:151372009-151372018 chr1:151372026-151372035
6	POLR2A	chr1:151371695-151372427	K562	blood:	n/a	n/a
7	ATF3	chr1:151371725-151372346	A549	lung:	n/a	n/a
8	MTA3	chr1:151371612-151376558	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:151371628-151372574	MCF-7	breast:	n/a	n/a
10	BACH1	chr1:151371808-151372310	H1-hESC	embryonic stem cell:	n/a	n/a
11	ELF1	chr1:151371725-151372259	K562	blood:	n/a	chr1:151372010-151372019 chr1:151372008-151372021
12	SIN3AK20	chr1:151371779-151372702	K562	blood:	n/a	n/a
13	MYBL2	chr1:151371568-151372307	HepG2	liver:	n/a	n/a
14	TCF12	chr1:151371496-151372635	A549	lung:	n/a	n/a
15	CEBPB	chr1:151371698-151372161	HepG2	liver:	n/a	chr1:151371884-151371895
16	POLR2A	chr1:151371730-151372313	GM12878	blood:	n/a	n/a
17	SPI1	chr1:151371871-151372088	K562	blood:	n/a	chr1:151372010-151372019 chr1:151372008-151372021
18	NFATC1	chr1:151371653-151372166	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:151371461-151372604	GM12878	blood:	n/a	n/a
20	YY1	chr1:151371672-151372310	A549	lung:	n/a	chr1:151371953-151371961 chr1:151371942-151371964
21	SPI1	chr1:151371832-151372144	K562	blood:	n/a	chr1:151372010-151372019 chr1:151372008-151372021
22	BRCA1	chr1:151371813-151372175	Hela-S3	cervix:	n/a	n/a
23	SMC3	chr1:151371726-151372235	GM12878	blood:	n/a	n/a
24	RAD21	chr1:151371726-151372222	ECC-1	luminal epithelium:	n/a	n/a
25	FOS	chr1:151371800-151372105	MCF10A-Er-Src	breast:	n/a	n/a
26	CREB1	chr1:151371697-151372659	K562	blood:	n/a	chr1:151371743-151371756
27	POLR2A	chr1:151371722-151372310	K562	blood:	n/a	n/a
28	MAX	chr1:151371751-151372194	HepG2	liver:	n/a	n/a
29	IRF1	chr1:151371741-151372301	K562	blood:	n/a	chr1:151371977-151371991 chr1:151371990-151372004
30	ZBTB33	chr1:151371728-151372209	A549	lung:	n/a	n/a
31	POU2F2	chr1:151371723-151372121	GM12878	blood:	n/a	n/a
32	ZBTB7A	chr1:151371845-151372537	K562	blood:	n/a	n/a
33	POLR2A	chr1:151371659-151372701	HCT-116	colon:	n/a	n/a
34	CBX3	chr1:151371662-151372200	K562	blood:	n/a	n/a
35	POLR2A	chr1:151371705-151372321	K562	blood:	n/a	n/a
36	MAX	chr1:151371676-151372752	K562	blood:	n/a	n/a
37	SIX5	chr1:151371717-151372179	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:151371609-151372275	GM12891	blood:	n/a	n/a
39	ETS1	chr1:151371651-151372251	K562	blood:	n/a	chr1:151372009-151372018 chr1:151372017-151372024
40	ELK4	chr1:151371826-151372579	Hela-S3	cervix:	n/a	chr1:151372007-151372018
41	POU2F2	chr1:151371689-151372205	GM12891	blood:	n/a	n/a
42	POLR2A	chr1:151371697-151372682	GM18526	blood:	n/a	n/a
43	PML	chr1:151371621-151372848	GM12878	blood:	n/a	n/a
44	MTA3	chr1:151371726-151372273	GM12878	blood:	n/a	n/a
45	REST	chr1:151371973-151372253	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr1:151371549-151376573	PANC-1	pancreas:	n/a	n/a
47	CREB1	chr1:151371749-151372179	A549	lung:	n/a	n/a
48	IRF4	chr1:151371676-151372156	GM12878	blood:	n/a	n/a
49	RCOR1	chr1:151371725-151372198	Hela-S3	cervix:	n/a	n/a
50	SIN3AK20	chr1:151371758-151372175	A549	lung:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151372028..151374418-chr1:151511841..151514665,2	MCF-7	breast:
2	chr1:151254429..151257729-chr1:151370560..151375073,7	MCF-7	breast:
3	chr1:151370719..151373828-chr1:151394792..151398021,4	MCF-7	breast:
4	chr1:151225665..151228952-chr1:151371435..151373604,4	MCF-7	breast:
5	chr1:151313111..151313905-chr1:151371422..151372069,3	MCF-7	breast:
6	chr1:151341989..151348019-chr1:151370228..151376359,14	MCF-7	breast:
7	chr1:151371183..151372890-chr1:151431011..151433472,2	MCF-7	breast:
8	chr1:151312120..151316742-chr1:151370081..151375586,6	MCF-7	breast:
9	chr1:151318180..151322621-chr1:151370786..151375600,7	K562	blood:
10	chr1:151252692..151257354-chr1:151370358..151373702,7	K562	blood:
11	1:151171193-151178589..1:151368336-151375897	Hela-S3	cervix:
12	chr1:151252566..151256216-chr1:151370228..151373702,9	K562	blood:
13	chr1:151318199..151320967-chr1:151371516..151373553,2	K562	blood:
14	chr1:151297425..151301136-chr1:151370895..151373723,5	MCF-7	breast:
15	chr1:151370811..151373589-chr1:151512732..151514796,2	K562	blood:
16	1:151368336-151375897..1:151592347-151603110	Hela-S3	cervix:
17	chr1:151273322..151275078-chr1:151370486..151372389,2	MCF-7	breast:
18	chr1:151371684..151372560-chr17:57915184..57915738,2	MCF-7	breast:
19	chr1:151252229..151256416-chr1:151370480..151373573,6	MCF-7	breast:
20	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
21	chr1:151343373..151350462-chr1:151369795..151376328,11	MCF-7	breast:
22	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
23	chr1:151317450..151322791-chr1:151370457..151374000,10	MCF-7	breast:
24	chr1:151371851..151372388-chr2:46843826..46844603,2	HCT-116	colon:
25	chr1:151299305..151301447-chr1:151370337..151372394,3	MCF-7	breast:
26	chr1:151160213..151162825-chr1:151370506..151372060,2	K562	blood:
27	chr1:151319505..151321169-chr1:151370320..151372349,2	MCF-7	breast:
28	chr1:151162193..151163907-chr1:151370731..151372764,2	MCF-7	breast:
29	chr1:151344758..151345571-chr1:151371234..151372258,3	MCF-7	breast:
30	chr1:151318980..151319798-chr1:151371884..151372449,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMB4	TF binding region
ENSG00000143442	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000237976	Chromatin interaction
ENSG00000265753	Chromatin interaction
ENSG00000163159	Chromatin interaction
ENSG00000224645	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143416	Chromatin interaction
ENSG00000151665	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000119878	Chromatin interaction
ENSG00000273481	Chromatin interaction
ENSG00000143390	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000159352	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11204806	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204820	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12566457	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12566673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1539493	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap]
rs1571294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16833248	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16833263	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16833274	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3748549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3818561	1.00[CEU][hapmap]
rs4147451	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4354539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4970953	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4971045	0.82[EUR][1000 genomes]
rs56317453	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58057716	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59153459	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59848815	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587574	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6587586	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6669679	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6704126	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67750241	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633634	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72633635	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633636	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72633637	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72633638	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72633639	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7548614	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9729256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers 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	219 gene(s)	inside rSNPs	diseases
2	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv872424	chr1:151325055-151413180	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv872425	chr1:151325055-151413790	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv2756864	chr1:151328794-151411635	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2758969	chr1:151328794-151411635	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv872428	chr1:151329138-151395782	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv872429	chr1:151329138-151413180	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv8380	chr1:151329887-151410346	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2753659	chr1:151330927-151384927	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv824575	chr1:151331533-151408096	Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv463761	chr1:151333167-151404848	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv463772	chr1:151333167-151404848	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv463783	chr1:151333167-151404848	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
17	nsv463794	chr1:151333167-151404848	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
18	nsv463805	chr1:151333167-151404848	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
19	nsv463816	chr1:151333167-151404848	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
20	nsv470737	chr1:151333167-151404848	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv547849	chr1:151333167-151404848	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
22	nsv818467	chr1:151333167-151404848	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
23	nsv463827	chr1:151333167-151413180	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
24	nsv547850	chr1:151333167-151413180	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
25	nsv1011398	chr1:151333430-151402839	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
26	nsv872430	chr1:151334796-151413180	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
27	nsv441714	chr1:151336699-151397878	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
28	esv2753719	chr1:151337788-151373200	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
29	nsv463839	chr1:151338570-151404848	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
30	nsv547851	chr1:151338570-151404848	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
31	nsv872431	chr1:151338570-151413180	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
32	nsv872432	chr1:151339196-151413180	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
33	nsv872433	chr1:151341417-151413180	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
34	nsv872434	chr1:151347820-151413180	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
35	nsv872435	chr1:151351060-151413180	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases
36	nsv872436	chr1:151357333-151413180	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2296840	PSMB4	cis	lymphoblastoid	seeQTL
rs2296840	ENSG00000159377	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151371200-151372200	Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr1:151371200-151372200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:151371200-151372200	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:151371200-151372400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr1:151371200-151372600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:151371200-151372800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:151371200-151372800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:151371200-151372800	Active TSS	Fetal Brain Female	brain
9	chr1:151371200-151372800	Active TSS	NHEK	skin
10	chr1:151371200-151372800	Active TSS	Osteobl	bone
11	chr1:151371200-151373000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:151371400-151372200	Active TSS	Primary hematopoietic stem cells	blood
13	chr1:151371400-151372200	Active TSS	Fetal Intestine Small	intestine
14	chr1:151371400-151372200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr1:151371400-151372200	Active TSS	HepG2	liver
16	chr1:151371400-151372400	Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr1:151371400-151372400	Active TSS	Adipose Nuclei	Adipose
18	chr1:151371400-151372400	Active TSS	Liver	Liver
19	chr1:151371400-151372400	Active TSS	Brain Germinal Matrix	brain
20	chr1:151371400-151372400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:151371400-151372400	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:151371400-151372400	Active TSS	K562	blood
23	chr1:151371400-151372600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:151371400-151372600	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:151371400-151372600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:151371400-151372600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:151371400-151372600	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr1:151371400-151372600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:151371400-151372600	Active TSS	Brain Angular Gyrus	brain
30	chr1:151371400-151372600	Active TSS	Brain Anterior Caudate	brain
31	chr1:151371400-151372600	Active TSS	Brain Cingulate Gyrus	brain
32	chr1:151371400-151372600	Active TSS	Brain Hippocampus Middle	brain
33	chr1:151371400-151372600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr1:151371400-151372600	Active TSS	Colonic Mucosa	Colon
35	chr1:151371400-151372600	Active TSS	Duodenum Mucosa	Duodenum
36	chr1:151371400-151372600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr1:151371400-151372600	Active TSS	Fetal Intestine Large	intestine
38	chr1:151371400-151372600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:151371400-151372600	Active TSS	Stomach Smooth Muscle	stomach
40	chr1:151371400-151372600	Active TSS	Thymus	Thymus
41	chr1:151371400-151372800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr1:151371400-151372800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:151371400-151372800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:151371400-151372800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:151371400-151372800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:151371400-151372800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:151371400-151372800	Active TSS	Fetal Kidney	kidney
48	chr1:151371400-151372800	Active TSS	Fetal Muscle Trunk	muscle
49	chr1:151371400-151372800	Active TSS	Right Atrium	heart
50	chr1:151371400-151372800	Active TSS	Right Ventricle	heart

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