Variant report

Variant	rs7549276
Chromosome Location	chr1:155248575-155248576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:155248560-155248710	GM12870	blood:	n/a	n/a
2	SP1	chr1:155247963-155248603	H1-hESC	embryonic stem cell:	n/a	chr1:155248143-155248157 chr1:155248146-155248158 chr1:155248147-155248157 chr1:155248296-155248308 chr1:155248296-155248307 chr1:155248297-155248307 chr1:155248146-155248158 chr1:155248148-155248157 chr1:155248297-155248306 chr1:155248298-155248307 chr1:155248297-155248307 chr1:155248248-155248259 chr1:155248296-155248308 chr1:155248293-155248307 chr1:155247978-155247992 chr1:155248147-155248156
3	EGR1	chr1:155247836-155248578	MCF-7	breast:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
4	REST	chr1:155247522-155248589	MCF-7	breast:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
5	REST	chr1:155246965-155248606	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
6	CTCF	chr1:155246713-155248704	SK-N-SH	brain:	n/a	chr1:155248141-155248154
7	EGR1	chr1:155247936-155248631	HCT-116	colon:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
8	MXI1	chr1:155246229-155248789	IMR90	lung:	n/a	n/a
9	MAZ	chr1:155246322-155248791	IMR90	lung:	n/a	chr1:155248291-155248301
10	REST	chr1:155247014-155248706	A549	lung:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
11	MAZ	chr1:155248124-155248598	Hela-S3	cervix:	n/a	chr1:155248291-155248301
12	BACH1	chr1:155248247-155248681	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr1:155246876-155248750	K562	blood:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
14	REST	chr1:155247004-155248794	HL-60	blood:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
15	REST	chr1:155247669-155248664	PANC-1	pancreas:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
16	SMC3	chr1:155246444-155248773	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr1:155246852-155248928	H1-neurons	neurons:	n/a	n/a
18	MTA3	chr1:155247968-155248650	GM12878	blood:	n/a	n/a
19	REST	chr1:155246952-155249072	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
20	REST	chr1:155247858-155248576	Hela-S3	cervix:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
21	REST	chr1:155246807-155248853	U87	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
22	TAF1	chr1:155247847-155249522	H1-neurons	neurons:	n/a	n/a
23	CTCF	chr1:155248460-155248610	A549	lung:	n/a	n/a
24	TAF1	chr1:155248060-155248888	H1-neurons	neurons:	n/a	n/a
25	REST	chr1:155247095-155248629	ECC-1	luminal epithelium:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
26	REST	chr1:155247665-155248587	HCT-116	colon:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
27	RAD21	chr1:155246704-155248950	SK-N-SH	brain:	n/a	chr1:155247865-155247875 chr1:155247014-155247024 chr1:155247012-155247025
28	REST	chr1:155246957-155248599	MCF-7	breast:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
29	CTCF	chr1:155247628-155248714	A549	lung:	n/a	chr1:155248141-155248154
30	REST	chr1:155246764-155249731	H1-neurons	neurons:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
31	HDAC2	chr1:155248138-155248593	MCF-7	breast:	n/a	n/a
32	EGR1	chr1:155247908-155248575	MCF-7	breast:	n/a	chr1:155248147-155248157 chr1:155248143-155248157 chr1:155248196-155248210
33	POLR2A	chr1:155246918-155248977	H1-neurons	neurons:	n/a	n/a
34	EGR1	chr1:155246776-155248611	HCT-116	colon:	n/a	chr1:155247269-155247280 chr1:155248147-155248157 chr1:155247224-155247238 chr1:155248143-155248157 chr1:155248196-155248210
35	REST	chr1:155247677-155248605	ECC-1	luminal epithelium:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
36	SIN3A	chr1:155246766-155248622	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr1:155246106-155248718	SK-N-SH	brain:	n/a	n/a
38	REST	chr1:155247762-155248583	HepG2	liver:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
39	REST	chr1:155246967-155248862	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
40	REST	chr1:155246968-155248715	H1-neurons	neurons:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
41	RAD21	chr1:155248145-155248579	MCF-7	breast:	n/a	n/a
42	RAD21	chr1:155248085-155248659	A549	lung:	n/a	n/a
43	RAD21	chr1:155248009-155248633	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155245319..155249606-chr1:155290397..155296026,10	K562	blood:
2	chr1:155246729..155248789-chr1:155285548..155288546,2	K562	blood:
3	chr1:155246042..155249168-chr1:155274467..155279979,9	MCF-7	breast:
4	chr1:155245586..155250751-chr1:155275814..155280484,11	K562	blood:
5	chr1:155246581..155249773-chr1:155532192..155535114,5	MCF-7	breast:
6	chr1:155247579..155249594-chr1:155291407..155294403,2	K562	blood:
7	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
8	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
9	chr1:155246820..155248691-chr1:155292451..155293728,14	MCF-7	breast:
10	chr1:155245052..155250020-chr1:155276306..155280611,10	MCF-7	breast:
11	chr1:155163753..155165613-chr1:155247738..155249904,2	K562	blood:

Variant related genes	Relation type
HCN3	TF binding region
CLK2	TF binding region
ENSG00000225855	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000116539	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10128085	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1045253	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1046188	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1052176	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1052177	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1076556	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078699	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10796940	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10796941	0.81[EUR][1000 genomes]
rs10796943	0.82[CHB][hapmap];0.90[TSI][hapmap]
rs10796945	0.84[CHB][hapmap];0.85[TSI][hapmap]
rs10908459	0.86[ASN][1000 genomes]
rs10908461	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10908462	0.80[AMR][1000 genomes]
rs10908463	0.91[CEU][hapmap];0.84[CHB][hapmap];0.86[MEX][hapmap]
rs10908465	0.84[CHB][hapmap];0.85[TSI][hapmap]
rs11264343	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11264345	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11264346	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264347	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11264348	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264349	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264351	0.91[ASN][1000 genomes]
rs11264352	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264353	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264354	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11264355	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264357	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11264358	0.80[EUR][1000 genomes]
rs11264359	0.87[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.85[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11264361	0.91[CEU][hapmap];0.84[CHB][hapmap];0.80[CHD][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap]
rs11264367	0.84[CHB][hapmap]
rs11264369	0.84[CHB][hapmap]
rs11264371	0.84[CHB][hapmap]
rs11264372	0.84[CHB][hapmap]
rs11264375	0.84[CHB][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap]
rs1142287	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11577338	0.99[ASN][1000 genomes]
rs12026638	0.89[CHB][hapmap];0.85[TSI][hapmap]
rs12032720	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12034326	0.87[ASN][1000 genomes]
rs12041534	0.84[CHB][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs12042020	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044063	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12049375	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12067675	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12239114	0.84[CHB][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs12407919	0.84[ASN][1000 genomes]
rs12563994	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723761	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12724079	0.84[CHB][hapmap]
rs12724449	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12732972	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12748155	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12749306	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1325908	0.84[CHB][hapmap]
rs1546818	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1800438	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1800442	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1807042	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2009578	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2071053	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2072647	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075566	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075569	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2236863	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236864	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242576	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242577	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2297480	0.91[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes]
rs2361536	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2361543	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28373017	0.81[ASN][1000 genomes]
rs3020781	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34906309	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3754485	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3762272	0.89[ASN][1000 genomes]
rs3768566	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3814318	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814319	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4043	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4620533	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5005770	0.84[CHB][hapmap];0.85[TSI][hapmap]
rs56310840	0.84[ASN][1000 genomes]
rs59062514	0.88[ASN][1000 genomes]
rs59352002	0.83[ASN][1000 genomes]
rs6672284	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs734073	0.93[ASN][1000 genomes]
rs734074	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs741756	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7520184	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7524950	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7534795	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7543234	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7554780	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762488	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8177968	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs932972	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9426886	0.83[JPT][hapmap]
rs9628662	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9729564	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer 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	434 gene(s)	inside rSNPs	diseases
3	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
4	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers 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	452 gene(s)	inside rSNPs	diseases
5	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
6	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
7	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
8	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv1826485	chr1:155214478-155264270	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	esv1824971	chr1:155215985-155260869	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	67 gene(s)	inside rSNPs	diseases
12	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
13	esv1832799	chr1:155226846-155261543	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	esv17013	chr1:155227059-155262674	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	esv1797617	chr1:155228592-155264270	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	esv1829849	chr1:155228592-155264270	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
17	esv1832093	chr1:155230444-155253599	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
18	esv1826500	chr1:155230444-155261567	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	esv1831471	chr1:155230444-155261567	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	esv1826924	chr1:155230444-155271566	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
21	esv1830821	chr1:155230610-155265661	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	esv1831955	chr1:155230610-155265661	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
23	esv1826761	chr1:155230622-155262613	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	31 gene(s)	inside rSNPs	diseases
24	esv1826280	chr1:155230622-155262851	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
25	esv1832100	chr1:155230622-155269896	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
26	esv1830793	chr1:155230644-155261367	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
27	esv1827811	chr1:155230644-155271366	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
28	esv1827924	chr1:155230644-155271366	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
29	esv1826306	chr1:155232074-155261777	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
30	esv1832706	chr1:155232647-155261567	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
31	esv1831149	chr1:155233501-155252122	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
32	esv1829673	chr1:155235493-155261280	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
33	esv1831963	chr1:155239116-155267459	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
34	esv1830532	chr1:155239128-155267471	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs7549276	BIRC6	trans	parietal	SCAN
rs7549276	HCN3	cis	multi-tissue	Pritchard
rs7549276	THEM5	cis	parietal	SCAN
rs7549276	SPRR2A	cis	cerebellum	SCAN
rs7549276	GBA	cis	Esophagus Mucosa	GTEx
rs7549276	GBAP1	cis	Artery Tibial	GTEx
rs7549276	LCE1C	cis	parietal	SCAN
rs7549276	THBS3	cis	Whole Blood	GTEx
rs7549276	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs7549276	GBAP1	cis	Thyroid	GTEx
rs7549276	CRNN	cis	cerebellum	SCAN
rs7549276	GBAP1	cis	Esophagus Mucosa	GTEx
rs7549276	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs7549276	YY1AP1	cis	cerebellum	SCAN
rs7549276	GBAP1	cis	parietal	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155246600-155248600	Flanking Active TSS	Dnd41	blood
2	chr1:155247000-155249000	Active TSS	Brain Anterior Caudate	brain
3	chr1:155247000-155249000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:155247200-155248600	Flanking Active TSS	Colonic Mucosa	Colon
5	chr1:155247200-155249400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:155247400-155248600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:155247400-155248600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:155247600-155248600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:155247600-155248600	Flanking Active TSS	NHEK	skin
10	chr1:155247800-155248600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr1:155247800-155248600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:155247800-155248600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:155247800-155248600	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr1:155247800-155248600	Flanking Active TSS	Fetal Lung	lung
15	chr1:155247800-155248600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:155247800-155248600	Flanking Active TSS	K562	blood
17	chr1:155247800-155248800	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr1:155247800-155248800	Flanking Active TSS	Hela-S3	cervix
19	chr1:155247800-155249200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:155247800-155256000	Weak transcription	Aorta	Aorta
21	chr1:155248000-155248600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:155248000-155248600	Enhancers	Primary T cells from cord blood	blood
23	chr1:155248000-155248600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:155248000-155248600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:155248000-155248600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:155248000-155248600	Enhancers	Fetal Heart	heart
27	chr1:155248000-155248600	Enhancers	Gastric	stomach
28	chr1:155248000-155248800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:155248000-155248800	Enhancers	Left Ventricle	heart
30	chr1:155248000-155248800	Enhancers	Pancreas	Pancrea
31	chr1:155248000-155249000	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:155248000-155249400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:155248000-155249800	Weak transcription	Stomach Mucosa	stomach
34	chr1:155248200-155248600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:155248200-155248600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:155248200-155248600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:155248200-155248600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:155248200-155248600	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:155248200-155248600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:155248200-155248600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:155248200-155248600	Enhancers	Adipose Nuclei	Adipose
42	chr1:155248200-155248600	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr1:155248200-155248600	Enhancers	Placenta	Placenta
44	chr1:155248200-155248600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:155248200-155248600	Active TSS	Stomach Smooth Muscle	stomach
46	chr1:155248200-155248600	Flanking Active TSS	HepG2	liver
47	chr1:155248200-155248600	Enhancers	NH-A	brain
48	chr1:155248200-155248600	Enhancers	NHLF	lung
49	chr1:155248200-155248800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:155248200-155248800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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