Variant report

Variant	rs12749306
Chromosome Location	chr1:155247707-155247708
allele	G/T
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	MAX	chr1:155246664-155247739	ECC-1	luminal epithelium:	n/a	n/a
2	ZBTB7A	chr1:155246881-155248392	K562	blood:	n/a	chr1:155247370-155247381
3	REST	chr1:155247522-155248589	MCF-7	breast:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
4	MAX	chr1:155246770-155247727	MCF-7	breast:	n/a	n/a
5	REST	chr1:155246965-155248606	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
6	E2F4	chr1:155246566-155247912	Hela-S3	cervix:	n/a	chr1:155247002-155247009 chr1:155247002-155247009 chr1:155247001-155247013 chr1:155247001-155247010 chr1:155247002-155247009 chr1:155247780-155247792 chr1:155247001-155247009 chr1:155247000-155247011
7	ELF1	chr1:155247402-155247915	K562	blood:	n/a	chr1:155247651-155247664
8	CTCF	chr1:155246713-155248704	SK-N-SH	brain:	n/a	chr1:155248141-155248154
9	MXI1	chr1:155246229-155248789	IMR90	lung:	n/a	n/a
10	MAZ	chr1:155246322-155248791	IMR90	lung:	n/a	chr1:155248291-155248301
11	REST	chr1:155247014-155248706	A549	lung:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
12	TAF1	chr1:155246954-155247824	H1-neurons	neurons:	n/a	n/a
13	ELF1	chr1:155247482-155247854	HepG2	liver:	n/a	chr1:155247651-155247664
14	MAZ	chr1:155246876-155247725	Hela-S3	cervix:	n/a	n/a
15	MAX	chr1:155246577-155247765	A549	lung:	n/a	n/a
16	ELF1	chr1:155247497-155247794	HepG2	liver:	n/a	chr1:155247651-155247664
17	REST	chr1:155246876-155248750	K562	blood:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
18	REST	chr1:155247004-155248794	HL-60	blood:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
19	REST	chr1:155247669-155248664	PANC-1	pancreas:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
20	SMC3	chr1:155246444-155248773	SK-N-SH	brain:	n/a	n/a
21	ELF1	chr1:155246907-155248371	GM12878	blood:	n/a	chr1:155247651-155247664 chr1:155247918-155247929
22	POLR2A	chr1:155246852-155248928	H1-neurons	neurons:	n/a	n/a
23	ELF1	chr1:155246833-155247865	GM12878	blood:	n/a	chr1:155247651-155247664
24	REST	chr1:155246952-155249072	PFSK-1	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
25	REST	chr1:155246807-155248853	U87	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
26	CBX3	chr1:155246748-155247730	K562	blood:	n/a	n/a
27	ELF1	chr1:155247420-155247780	A549	lung:	n/a	chr1:155247651-155247664
28	REST	chr1:155247607-155248574	PANC-1	pancreas:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
29	REST	chr1:155247095-155248629	ECC-1	luminal epithelium:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
30	REST	chr1:155247665-155248587	HCT-116	colon:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
31	RAD21	chr1:155246704-155248950	SK-N-SH	brain:	n/a	chr1:155247865-155247875 chr1:155247014-155247024 chr1:155247012-155247025
32	REST	chr1:155246957-155248599	MCF-7	breast:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
33	ZBTB7A	chr1:155246990-155248517	ECC-1	luminal epithelium:	n/a	chr1:155247370-155247381
34	REST	chr1:155247693-155248475	GM12878	blood:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
35	CTCF	chr1:155247628-155248714	A549	lung:	n/a	chr1:155248141-155248154
36	SIN3AK20	chr1:155247451-155248479	H1-hESC	embryonic stem cell:	n/a	n/a
37	REST	chr1:155247452-155248565	GM12878	blood:	n/a	chr1:155248390-155248399 chr1:155248294-155248307
38	ELF1	chr1:155247410-155247738	A549	lung:	n/a	chr1:155247651-155247664
39	REST	chr1:155246764-155249731	H1-neurons	neurons:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
40	GABPA	chr1:155246914-155247901	K562	blood:	n/a	chr1:155247240-155247249 chr1:155247726-155247735
41	SMARCB1	chr1:155247000-155248438	Hela-S3	cervix:	n/a	n/a
42	MAZ	chr1:155246816-155247739	K562	blood:	n/a	n/a
43	POLR2A	chr1:155246918-155248977	H1-neurons	neurons:	n/a	n/a
44	SMARCC1	chr1:155246832-155248080	Hela-S3	cervix:	n/a	n/a
45	MAX	chr1:155246665-155247737	HepG2	liver:	n/a	n/a
46	REST	chr1:155247000-155248552	HCT-116	colon:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307
47	ZBTB7A	chr1:155246957-155248560	ECC-1	luminal epithelium:	n/a	chr1:155247370-155247381
48	EGR1	chr1:155246776-155248611	HCT-116	colon:	n/a	chr1:155247269-155247280 chr1:155248147-155248157 chr1:155247224-155247238 chr1:155248143-155248157 chr1:155248196-155248210
49	ELF1	chr1:155246925-155247914	K562	blood:	n/a	chr1:155247651-155247664
50	REST	chr1:155246983-155248569	SK-N-SH	brain:	n/a	chr1:155247069-155247087 chr1:155248390-155248399 chr1:155248294-155248307

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155247706-155247756	SK-N-MC	brain:	n/a
2	chr1:155247706-155247756	HUVEC	blood vessel:	n/a
3	chr1:155247706-155247756	HNPCEpiC	eye:	n/a
4	chr1:155247706-155247756	AoSMC	blood vessel:	n/a
5	chr1:155247706-155247756	PFSK-1	brain:	n/a
6	chr1:155247706-155247756	HAEpiC	amniotic membrane:	n/a
7	chr1:155247706-155247756	RPTEC	kidney:	n/a
8	chr1:155247706-155247756	GM19239	blood:	n/a
9	chr1:155247706-155247756	HepG2	liver:	n/a
10	chr1:155247706-155247756	HIPEpiC	eye:	n/a
11	chr1:155247706-155247756	AG10803	skin:	n/a
12	chr1:155247706-155247756	Caco-2	colon:	n/a
13	chr1:155247706-155247756	AG04450	lung:	fetal
14	chr1:155247706-155247756	ECC-1	luminal epithelium:	n/a
15	chr1:155247706-155247756	HRE	kidney:	n/a
16	chr1:155247706-155247756	PrEC	prostate:	n/a
17	chr1:155247706-155247756	T-47D	breast:	n/a
18	chr1:155247706-155247756	MCF10A-Er-Src	breast:	n/a
19	chr1:155247706-155247756	ovcar-3	ovarian:	n/a
20	chr1:155247706-155247756	BJ	skin:	n/a
21	chr1:155247706-155247756	HEK293	kidney:	embryo
22	chr1:155247706-155247756	HL-60	blood:	n/a
23	chr1:155247706-155247756	AG09309	skin:	n/a
24	chr1:155247706-155247756	GM06990	blood:	n/a
25	chr1:155247706-155247756	ProgFib	skin:	n/a
26	chr1:155247706-155247756	Jurkat	blood:	n/a
27	chr1:155247706-155247756	HMEC	breast:	n/a
28	chr1:155247706-155247756	SAEC	small airway:	n/a
29	chr1:155247706-155247756	NHDF-neo	bronchial:	n/a
30	chr1:155247706-155247756	HCT-116	colon:	n/a
31	chr1:155247706-155247756	Hepatocyte	liver:	n/a
32	chr1:155247706-155247756	HCPEpiC	choroid plexus:	n/a
33	chr1:155247706-155247756	HEEpiC	esophagus:	n/a
34	chr1:155247706-155247756	HCM	heart:	n/a
35	chr1:155247706-155247756	MCF-7	breast:	n/a
36	chr1:155247706-155247756	NHBE	bronchial:	n/a
37	chr1:155247706-155247756	AG04449	skin:	fetal
38	chr1:155247706-155247756	NT2-D1	testis:	n/a
39	chr1:155247706-155247756	PANC-1	pancreas:	n/a
40	chr1:155247706-155247756	HRPEpiC	eye:	n/a
41	chr1:155247706-155247756	SKMC	muscle:	n/a
42	chr1:155247706-155247756	NH-A	brain:	n/a
43	chr1:155247706-155247756	AG09319	gingival:	n/a
44	chr1:155247706-155247756	K562	blood:	n/a
45	chr1:155247706-155247756	H1-hESC	embryonic stem cell:	embryo
46	chr1:155247706-155247756	GM12892	blood:	n/a
47	chr1:155247706-155247756	U87	brain:	n/a
48	chr1:155247706-155247756	BE2_C	brain:	n/a
49	chr1:155247706-155247756	NB4	blood:	n/a
50	chr1:155247706-155247756	GM12891	blood:	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	chr1:155246970..155247993-chr1:155292861..155294105,5	MCF-7	breast:
4	chr1:155213691..155215819-chr1:155247024..155248547,2	MCF-7	breast:
5	chr1:155246042..155249168-chr1:155274467..155279979,9	MCF-7	breast:
6	chr1:155245586..155248343-chr1:155278550..155280734,4	K562	blood:
7	chr1:155245586..155250751-chr1:155275814..155280484,11	K562	blood:
8	chr1:155246581..155249773-chr1:155532192..155535114,5	MCF-7	breast:
9	chr1:155247579..155249594-chr1:155291407..155294403,2	K562	blood:
10	chr1:155245096..155252304-chr1:155290044..155297941,20	MCF-7	breast:
11	chr1:155245749..155249889-chr1:155291182..155296435,17	MCF-7	breast:
12	chr1:155246820..155248691-chr1:155292451..155293728,14	MCF-7	breast:
13	chr1:155245052..155250020-chr1:155276306..155280611,10	MCF-7	breast:

Variant related genes	Relation type
CLK2	TF binding region
HCN3	TF binding region
CLK2	CpG island
HCN3	CpG island
ENSG00000116539	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000160752	Chromatin interaction
ENSG00000177628	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 17 )

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

rs_ID	r²[population]
rs10128085	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1045253	0.84[ASN][1000 genomes]
rs1046188	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1052176	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1052177	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1076556	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1078699	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10796940	0.84[ASN][1000 genomes]
rs10796941	0.82[AMR][1000 genomes];0.82[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	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10908462	0.81[EUR][1000 genomes]
rs10908463	0.95[CEU][hapmap];0.84[CHB][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10908465	0.83[CEU][hapmap];0.84[CHB][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs11264343	0.84[ASN][1000 genomes]
rs11264345	0.85[ASN][1000 genomes]
rs11264346	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264347	0.86[EUR][1000 genomes]
rs11264348	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264349	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264351	0.91[ASN][1000 genomes]
rs11264352	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264353	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11264354	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11264355	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11264357	0.85[EUR][1000 genomes]
rs11264358	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11264359	0.91[CEU][hapmap];0.90[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs11264361	0.95[CEU][hapmap];0.84[CHB][hapmap];0.80[CHD][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11264367	0.83[CEU][hapmap];0.84[CHB][hapmap]
rs11264369	0.84[CHB][hapmap]
rs11264371	0.84[CHB][hapmap]
rs11264372	0.84[CHB][hapmap]
rs11264375	0.83[CEU][hapmap];0.84[CHB][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap]
rs1142287	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11577338	0.99[ASN][1000 genomes]
rs12026638	0.89[CHB][hapmap];0.85[TSI][hapmap]
rs12032720	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12034326	0.87[ASN][1000 genomes]
rs12041534	0.83[CEU][hapmap];0.84[CHB][hapmap];0.85[MEX][hapmap];0.84[TSI][hapmap]
rs12042020	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12044063	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12049375	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12067675	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12239114	0.83[CEU][hapmap];0.84[CHB][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap]
rs12407919	0.84[ASN][1000 genomes]
rs12563994	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723761	0.83[ASN][1000 genomes]
rs12724079	0.84[CHB][hapmap]
rs12724449	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12732972	0.86[ASN][1000 genomes]
rs12748155	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1325908	0.84[CHB][hapmap]
rs1546818	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800438	0.85[ASN][1000 genomes]
rs1800442	0.82[ASN][1000 genomes]
rs1807042	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2009578	0.85[ASN][1000 genomes]
rs2071053	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2072647	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2075566	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2075569	0.85[ASN][1000 genomes]
rs2236863	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236864	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2242576	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242577	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2297480	0.95[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2361536	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2361543	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28373017	0.81[ASN][1000 genomes]
rs3020781	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34906309	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3754485	0.85[ASN][1000 genomes]
rs3762272	0.89[ASN][1000 genomes]
rs3768566	0.84[ASN][1000 genomes]
rs3814318	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814319	0.95[ASN][1000 genomes]
rs4043	0.84[ASN][1000 genomes]
rs4620533	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5005770	0.83[CEU][hapmap];0.84[CHB][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap]
rs56310840	0.84[ASN][1000 genomes]
rs59062514	0.88[ASN][1000 genomes]
rs59352002	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6672284	0.88[EUR][1000 genomes]
rs734073	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs734074	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs741756	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7520184	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7524950	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7534795	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7543234	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7549276	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554780	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs762488	0.85[ASN][1000 genomes]
rs8177968	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8847	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs932972	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9426886	0.83[JPT][hapmap]
rs9628662	0.85[ASN][1000 genomes]
rs9729564	0.88[AMR][1000 genomes];0.86[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:17)

SNP	Gene	Cis/trans	Tissue	Source
rs12749306	SPRR2A	cis	cerebellum	SCAN
rs12749306	CRNN	cis	cerebellum	SCAN
rs12749306	FDPS	cis	lymphoblastoid	seeQTL
rs12749306	GBAP1	cis	Artery Tibial	GTEx
rs12749306	THBS3	cis	Whole Blood	GTEx
rs12749306	YY1AP1	cis	cerebellum	SCAN
rs12749306	RIT1	cis	cerebellum	SCAN
rs12749306	THEM5	cis	parietal	SCAN
rs12749306	GBA	cis	Esophagus Mucosa	GTEx
rs12749306	RIT1	Cis_1M	lymphoblastoid	RTeQTL
rs12749306	CCT3	cis	parietal	SCAN
rs12749306	FDPS	Cis_1M	lymphoblastoid	RTeQTL
rs12749306	PKLR	cis	Nerve Tibial	GTEx
rs12749306	HCN3	cis	Nerve Tibial	GTEx
rs12749306	GBAP1	cis	parietal	SCAN
rs12749306	LCE1C	cis	parietal	SCAN
rs12749306	BIRC6	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155246400-155248200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr1:155246600-155247800	Active TSS	Muscle Satellite Cultured Cells	--
3	chr1:155246600-155248200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr1:155246600-155248200	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr1:155246600-155248200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr1:155246600-155248200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr1:155246600-155248200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:155246600-155248400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:155246600-155248600	Flanking Active TSS	Dnd41	blood
10	chr1:155246800-155247800	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:155246800-155247800	Active TSS	Right Ventricle	heart
12	chr1:155246800-155248000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:155246800-155248200	Active TSS	Esophagus	oesophagus
14	chr1:155246800-155248200	Active TSS	Fetal Brain Male	brain
15	chr1:155246800-155248200	Flanking Active TSS	Fetal Thymus	thymus
16	chr1:155246800-155248400	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:155246800-155248400	Active TSS	HSMMtube	muscle
18	chr1:155247000-155247800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr1:155247000-155247800	Active TSS	Primary T helper naive cells from peripheral blood	blood
20	chr1:155247000-155247800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:155247000-155247800	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr1:155247000-155247800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:155247000-155247800	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr1:155247000-155247800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:155247000-155247800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:155247000-155247800	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:155247000-155247800	Active TSS	Brain Hippocampus Middle	brain
28	chr1:155247000-155247800	Active TSS	Brain Substantia Nigra	brain
29	chr1:155247000-155247800	Active TSS	Colon Smooth Muscle	Colon
30	chr1:155247000-155247800	Active TSS	Fetal Lung	lung
31	chr1:155247000-155247800	Active TSS	Fetal Stomach	stomach
32	chr1:155247000-155247800	Active TSS	Lung	lung
33	chr1:155247000-155247800	Active TSS	Ovary	ovary
34	chr1:155247000-155247800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr1:155247000-155247800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:155247000-155247800	Active TSS	Hela-S3	cervix
37	chr1:155247000-155247800	Active TSS	HSMM	muscle
38	chr1:155247000-155247800	Active TSS	K562	blood
39	chr1:155247000-155248000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:155247000-155248000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:155247000-155248000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:155247000-155248000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr1:155247000-155248200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:155247000-155248200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:155247000-155248200	Active TSS	NHDF-Ad	bronchial
46	chr1:155247000-155248400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:155247000-155248400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr1:155247000-155248400	Active TSS	H9 Cell Line	embryonic stem cell
49	chr1:155247000-155248400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr1:155247000-155248400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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