Variant report

Variant	rs11762730
Chromosome Location	chr7:27190398-27190399
allele	A/C
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	chr7:27190066-27190856	ECC-1	luminal epithelium:	n/a	chr7:27190352-27190361
2	MYBL2	chr7:27190395-27190730	HepG2	liver:	n/a	n/a
3	MAFK	chr7:27190032-27190617	Hela-S3	cervix:	n/a	n/a
4	SMARCC1	chr7:27189782-27191078	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr7:27189834-27190826	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr7:27190281-27190757	NHEK	skin:	n/a	n/a
7	REST	chr7:27190077-27190940	MCF-7	breast:	n/a	chr7:27190847-27190856 chr7:27190353-27190362 chr7:27190348-27190368 chr7:27190349-27190367 chr7:27190354-27190368 chr7:27190348-27190368
8	REST	chr7:27189942-27191024	A549	lung:	n/a	chr7:27190942-27190955 chr7:27190847-27190856 chr7:27190353-27190362 chr7:27190348-27190368 chr7:27190349-27190367 chr7:27190354-27190368 chr7:27190348-27190368
9	TAF1	chr7:27189918-27190793	A549	lung:	n/a	n/a
10	CEBPB	chr7:27190186-27190770	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:27189947-27190970	A549	lung:	n/a	n/a
12	MYC	chr7:27190219-27190758	MCF10A-Er-Src	breast:	n/a	chr7:27190352-27190361
13	ZNF263	chr7:27189861-27191256	HEK293-T-REx	kidney:	n/a	n/a
14	PBX3	chr7:27190295-27191010	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr7:27190260-27190410	HEEpiC	esophagus:	n/a	n/a
16	RFX5	chr7:27190092-27190658	HepG2	liver:	n/a	n/a
17	PBX3	chr7:27190340-27190898	SK-N-SH	brain:	n/a	n/a
18	YY1	chr7:27189958-27190759	HepG2	liver:	n/a	chr7:27190570-27190584 chr7:27190641-27190652 chr7:27190638-27190652
19	MAZ	chr7:27190209-27190965	GM12878	blood:	n/a	chr7:27190352-27190361
20	MAX	chr7:27189704-27190915	A549	lung:	n/a	chr7:27190352-27190361
21	MAX	chr7:27189901-27190791	Hela-S3	cervix:	n/a	chr7:27190352-27190361
22	POLR2A	chr7:27190221-27190405	A549	lung:	n/a	n/a
23	CTCF	chr7:27190233-27190758	MCF-7	breast:	n/a	n/a
24	CTBP2	chr7:27190256-27192020	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:27189859-27190567	HepG2	liver:	n/a	n/a
26	MAX	chr7:27190075-27191084	NB4	blood:	n/a	chr7:27190352-27190361
27	POLR2A	chr7:27189921-27191037	A549	lung:	n/a	n/a
28	MXI1	chr7:27190300-27190610	GM12878	blood:	n/a	n/a
29	HA-E2F1	chr7:27190293-27191234	MCF-7	breast:	n/a	chr7:27190567-27190577
30	ZNF143	chr7:27190344-27190810	GM12878	blood:	n/a	n/a
31	REST	chr7:27190140-27190734	Hela-S3	cervix:	n/a	chr7:27190353-27190362 chr7:27190348-27190368 chr7:27190349-27190367 chr7:27190354-27190368 chr7:27190348-27190368
32	CTCF	chr7:27190335-27190805	A549	lung:	n/a	n/a
33	CTCF	chr7:27190388-27190803	HepG2	liver:	n/a	n/a
34	REST	chr7:27190003-27191051	HL-60	blood:	n/a	chr7:27190942-27190955 chr7:27190847-27190856 chr7:27190353-27190362 chr7:27190348-27190368 chr7:27190349-27190367 chr7:27190354-27190368 chr7:27190348-27190368
35	ZKSCAN1	chr7:27190275-27190770	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr7:27190366-27190818	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:27189954-27191240	Raji	blood:	n/a	n/a
38	TCF3	chr7:27190390-27190737	GM12878	blood:	n/a	n/a
39	CTCF	chr7:27190356-27190762	K562	blood:	n/a	n/a
40	POLR2A	chr7:27189887-27191136	HCT-116	colon:	n/a	n/a
41	NFIC	chr7:27190086-27190777	ECC-1	luminal epithelium:	n/a	n/a
42	YY1	chr7:27190090-27190793	ECC-1	luminal epithelium:	n/a	chr7:27190570-27190584 chr7:27190641-27190652 chr7:27190638-27190652
43	CTCF	chr7:27190275-27190411	GM19240	blood:	n/a	n/a
44	CREB1	chr7:27190154-27190932	A549	lung:	n/a	n/a
45	SP1	chr7:27190047-27190864	A549	lung:	n/a	chr7:27190371-27190381 chr7:27190552-27190563 chr7:27190427-27190436 chr7:27190371-27190380 chr7:27190367-27190381
46	CTCF	chr7:27190285-27190423	Hela-S3	cervix:	n/a	n/a
47	SMARCB1	chr7:27189768-27191238	Hela-S3	cervix:	n/a	n/a
48	REST	chr7:27190217-27190435	HepG2	liver:	n/a	chr7:27190353-27190362 chr7:27190348-27190368 chr7:27190349-27190367 chr7:27190354-27190368 chr7:27190348-27190368
49	REST	chr7:27189894-27190757	PANC-1	pancreas:	n/a	chr7:27190353-27190362 chr7:27190348-27190368 chr7:27190349-27190367 chr7:27190354-27190368 chr7:27190348-27190368
50	TCF12	chr7:27190390-27190707	GM12878	blood:	n/a	chr7:27190565-27190572

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27082525-27089724..7:27181770-27195105	Hela-S3	cervix:
2	7:27181770-27195105..7:27230275-27238414	GM12878	blood:
3	chr7:26883032..26883964-chr7:27190330..27191296,3	MCF-7	breast:
4	7:27162022-27164727..7:27181770-27195105	H1-hESC	embryonic stem cell:	embryo
5	chr7:27181480..27183219-chr7:27189259..27191878,2	MCF-7	breast:
6	chr7:27184989..27187193-chr7:27189201..27192004,2	MCF-7	breast:
7	chr7:27181736..27184705-chr7:27188724..27191664,4	MCF-7	breast:
8	chr7:27169441..27172151-chr7:27190133..27191991,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-8	chr7:27189671-27191300	ENSG00000254369

Variant related genes	Relation type
HOXA6	TF binding region
ENSG00000243766	Chromatin interaction
ENSG00000197576	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000254369	Chromatin interaction
ENSG00000106004	Chromatin interaction
ENSG00000253508	Chromatin interaction
ENSG00000213786	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10085570	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs10238095	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10246712	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11564055	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11983200	0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs12530948	0.97[ASN][1000 genomes]
rs12533947	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]
rs12666919	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666926	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548497	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs1725074	0.90[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs17449108	0.91[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs17471485	0.91[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs17471520	0.91[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs1801085	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs1859166	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.82[TSI][hapmap];0.90[ASN][1000 genomes]
rs2107063	0.91[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs2285722	0.87[ASN][1000 genomes]
rs2301720	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2301721	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2428432	0.91[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2428433	0.91[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2428434	0.91[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs2465275	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2465276	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs3735530	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801320	0.90[ASN][1000 genomes]
rs3807597	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs3823764	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[TSI][hapmap];0.90[ASN][1000 genomes]
rs4722657	0.92[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs4722659	0.92[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs4722666	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61384251	0.87[ASN][1000 genomes]
rs6461985	0.91[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6461987	0.91[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs68021164	0.94[ASN][1000 genomes]
rs6948297	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6957209	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6962314	0.91[ASN][1000 genomes]
rs6969780	0.91[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs6973182	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6976129	0.82[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs73071548	0.90[ASN][1000 genomes]
rs73071550	0.90[ASN][1000 genomes]
rs7341470	0.92[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs739734	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs7798733	0.90[ASN][1000 genomes]
rs7801565	0.89[CHB][hapmap]
rs7811753	0.85[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap]
rs875898	1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs886339	0.91[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929249	0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs983184	0.93[CEU][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs983185	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs983186	0.82[MEX][hapmap]
rs985652	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh 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	176 gene(s)	inside rSNPs	diseases
8	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
10	nsv887860	chr7:27127231-27196069	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
11	nsv887859	chr7:27127231-27196113	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv887861	chr7:27127231-27206688	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
13	nsv887862	chr7:27127231-27217359	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
14	nsv887863	chr7:27127231-27243106	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
15	nsv887864	chr7:27127231-27243962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
16	nsv887865	chr7:27127231-27247279	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
17	nsv887866	chr7:27127231-27248373	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
18	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
19	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
20	nsv887868	chr7:27135314-27202289	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
21	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
22	nsv887874	chr7:27136308-27196069	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
23	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
24	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
25	nsv1033316	chr7:27140645-27237951	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
26	nsv606465	chr7:27143757-27229549	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	174 gene(s)	inside rSNPs	diseases
27	nsv606466	chr7:27145024-27197319	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
28	nsv606467	chr7:27145100-27196113	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
29	nsv887875	chr7:27145100-27243962	Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
30	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
31	nsv5674	chr7:27152562-27197341	Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
32	nsv887876	chr7:27168858-27196069	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
33	nsv824042	chr7:27169231-27247232	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
34	nsv887877	chr7:27169388-27217359	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
35	nsv887878	chr7:27175295-27214557	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
36	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
37	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
38	nsv526526	chr7:27182142-27196113	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11762730	HOXA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27181800-27190400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
2	chr7:27183600-27190400	Flanking Active TSS	HUVEC	blood vessel
3	chr7:27186600-27191600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr7:27186600-27193000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr7:27186800-27190600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:27186800-27202600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:27187000-27190400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:27187200-27192400	Active TSS	Psoas Muscle	Psoas
9	chr7:27187400-27190800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr7:27187800-27190400	Flanking Active TSS	Osteobl	bone
11	chr7:27188400-27192400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:27188400-27192800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:27188800-27192600	Active TSS	NHLF	lung
14	chr7:27189000-27192600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:27189200-27190400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:27189200-27190800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:27189200-27192600	Active TSS	NHDF-Ad	bronchial
18	chr7:27189400-27190800	Active TSS	Fetal Kidney	kidney
19	chr7:27189400-27190800	Active TSS	Dnd41	blood
20	chr7:27189400-27190800	Active TSS	NHEK	skin
21	chr7:27189400-27191200	Active TSS	A549	lung
22	chr7:27189600-27190600	Active TSS	Hela-S3	cervix
23	chr7:27189800-27190400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr7:27189800-27190400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr7:27189800-27190400	Flanking Active TSS	HSMM	muscle
26	chr7:27189800-27190600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:27189800-27190600	Flanking Active TSS	Lung	lung
28	chr7:27189800-27190800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr7:27189800-27190800	Active TSS	Esophagus	oesophagus
30	chr7:27189800-27190800	Active TSS	Small Intestine	intestine
31	chr7:27189800-27191200	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:27189800-27191200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:27189800-27191600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr7:27189800-27192000	Enhancers	Spleen	Spleen
35	chr7:27189800-27192200	Active TSS	Aorta	Aorta
36	chr7:27189800-27192200	Flanking Active TSS	HMEC	breast
37	chr7:27189800-27192400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:27189800-27192600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:27189800-27192600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:27190000-27190400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
41	chr7:27190000-27190400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:27190000-27190400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr7:27190000-27190400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
44	chr7:27190000-27190400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr7:27190000-27190400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr7:27190000-27190400	Enhancers	Gastric	stomach
47	chr7:27190000-27190400	Enhancers	Pancreas	Pancrea
48	chr7:27190000-27190400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:27190000-27190600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:27190000-27190600	Bivalent Enhancer	Placenta	Placenta

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