Variant report

Variant	rs6461985
Chromosome Location	chr7:27150634-27150635
allele	C/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	CTBP2	chr7:27150181-27150989	H1-hESC	embryonic stem cell:	n/a	n/a
2	TEAD4	chr7:27150332-27150815	A549	lung:	n/a	n/a
3	TCF12	chr7:27150131-27151486	A549	lung:	n/a	n/a
4	TEAD4	chr7:27150285-27150771	A549	lung:	n/a	n/a
5	CTCF	chr7:27150540-27150690	HRE	kidney:	n/a	n/a
6	SP1	chr7:27150256-27151280	A549	lung:	n/a	n/a
7	BCL3	chr7:27150153-27150988	A549	lung:	n/a	chr7:27150501-27150514
8	POLR2A	chr7:27150114-27151949	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr7:27150078-27151774	IMR90	lung:	n/a	n/a
10	REST	chr7:27150403-27151075	A549	lung:	n/a	chr7:27150899-27150907
11	GATA3	chr7:27150141-27151376	A549	lung:	n/a	chr7:27151202-27151212
12	SIN3AK20	chr7:27150206-27150766	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr7:27150530-27151093	MCF10A-Er-Src	breast:	n/a	n/a
14	SUZ12	chr7:27147258-27151008	NT2-D1	testis:	n/a	n/a
15	STAT3	chr7:27150357-27152662	MCF10A-Er-Src	breast:	n/a	chr7:27151922-27151931 chr7:27151228-27151239 chr7:27151280-27151291 chr7:27152166-27152173 chr7:27151282-27151290 chr7:27151921-27151930
16	BCL3	chr7:27150103-27151323	A549	lung:	n/a	chr7:27150501-27150514
17	FOXA1	chr7:27150356-27150660	T-47D	breast:	n/a	n/a
18	MAZ	chr7:27149150-27151495	IMR90	lung:	n/a	chr7:27150339-27150348 chr7:27150337-27150350 chr7:27150339-27150348 chr7:27150339-27150348 chr7:27150334-27150353
19	MYC	chr7:27150345-27150654	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:27150168-27151691	PANC-1	pancreas:	n/a	n/a
21	GATA3	chr7:27150320-27150686	T-47D	breast:	n/a	n/a
22	CTCF	chr7:27150560-27150710	HMEC	breast:	n/a	n/a
23	MAFK	chr7:27150290-27151203	IMR90	lung:	n/a	chr7:27150475-27150486 chr7:27150470-27150486 chr7:27150475-27150486 chr7:27150473-27150487
24	FOS	chr7:27150470-27151625	MCF10A-Er-Src	breast:	n/a	chr7:27151027-27151038 chr7:27151029-27151036 chr7:27151181-27151195 chr7:27151029-27151038
25	CTCF	chr7:27150620-27150770	HMF	breast:	n/a	chr7:27150756-27150769
26	MAX	chr7:27150206-27150753	A549	lung:	n/a	chr7:27150339-27150348 chr7:27150337-27150350 chr7:27150339-27150348 chr7:27150339-27150348 chr7:27150334-27150353
27	STAT3	chr7:27150361-27152505	MCF10A-Er-Src	breast:	n/a	chr7:27151922-27151931 chr7:27151228-27151239 chr7:27151280-27151291 chr7:27152166-27152173 chr7:27151282-27151290 chr7:27151921-27151930
28	STAT3	chr7:27150514-27150659	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr7:27150453-27151615	MCF10A-Er-Src	breast:	n/a	chr7:27151027-27151038 chr7:27151029-27151036 chr7:27151181-27151195 chr7:27151029-27151038
30	MAX	chr7:27150162-27151385	A549	lung:	n/a	chr7:27150339-27150348 chr7:27150337-27150350 chr7:27150339-27150348 chr7:27150339-27150348 chr7:27150334-27150353
31	MYC	chr7:27150383-27151256	MCF10A-Er-Src	breast:	n/a	n/a
32	TCF7L2	chr7:27150154-27151047	PANC-1	pancreas:	n/a	chr7:27151029-27151038
33	ZNF263	chr7:27150256-27151757	HEK293-T-REx	kidney:	n/a	n/a
34	SIN3AK20	chr7:27150294-27150663	PANC-1	pancreas:	n/a	n/a
35	FOXA2	chr7:27150262-27150801	A549	lung:	n/a	n/a
36	STAT3	chr7:27150396-27152319	MCF10A-Er-Src	breast:	n/a	chr7:27151922-27151931 chr7:27151228-27151239 chr7:27151280-27151291 chr7:27152166-27152173 chr7:27151282-27151290 chr7:27151921-27151930
37	EP300	chr7:27150318-27151393	A549	lung:	n/a	chr7:27150505-27150521 chr7:27151029-27151038
38	GATA2	chr7:27150633-27151576	HUVEC	blood vessel:	n/a	chr7:27151202-27151212
39	SP1	chr7:27150270-27151322	A549	lung:	n/a	n/a
40	REST	chr7:27150295-27150641	PANC-1	pancreas:	n/a	chr7:27150397-27150410
41	CHD1	chr7:27134717-27152399	IMR90	lung:	n/a	chr7:27141647-27141657
42	STAT3	chr7:27150361-27152501	MCF10A-Er-Src	breast:	n/a	chr7:27151922-27151931 chr7:27151228-27151239 chr7:27151280-27151291 chr7:27152166-27152173 chr7:27151282-27151290 chr7:27151921-27151930
43	FOS	chr7:27150632-27151578	HUVEC	blood vessel:	n/a	chr7:27151027-27151038 chr7:27151029-27151036 chr7:27151181-27151195 chr7:27151029-27151038
44	FOXA2	chr7:27150336-27150751	A549	lung:	n/a	n/a
45	TCF7L2	chr7:27150370-27150671	HEK293	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27150598-27150648	Hepatocyte	liver:	n/a
2	chr7:27150598-27150648	SK-N-SH_RA	brain:	n/a
3	chr7:27150598-27150648	PFSK-1	brain:	n/a
4	chr7:27150598-27150648	MCF10A-Er-Src	breast:	n/a
5	chr7:27150598-27150648	Hela-S3	cervix:	n/a
6	chr7:27150598-27150648	BJ	skin:	n/a
7	chr7:27150598-27150648	GM12892	blood:	n/a
8	chr7:27150598-27150648	AG09309	skin:	n/a
9	chr7:27150598-27150648	HEK293	kidney:	embryo
10	chr7:27150598-27150648	HRE	kidney:	n/a
11	chr7:27150598-27150648	HCT-116	colon:	n/a
12	chr7:27150598-27150648	AG04450	lung:	fetal
13	chr7:27150598-27150648	MCF-7	breast:	n/a
14	chr7:27150598-27150648	Caco-2	colon:	n/a
15	chr7:27150598-27150648	T-47D	breast:	n/a
16	chr7:27150598-27150648	PANC-1	pancreas:	n/a
17	chr7:27150598-27150648	SK-N-SH	brain:	n/a
18	chr7:27150598-27150648	SAEC	small airway:	n/a
19	chr7:27150598-27150648	HNPCEpiC	eye:	n/a
20	chr7:27150598-27150648	H1-hESC	embryonic stem cell:	embryo
21	chr7:27150598-27150648	HRPEpiC	eye:	n/a
22	chr7:27150598-27150648	NHDF-neo	bronchial:	n/a
23	chr7:27150598-27150648	SK-N-MC	brain:	n/a
24	chr7:27150598-27150648	U87	brain:	n/a
25	chr7:27150598-27150648	ovcar-3	ovarian:	n/a
26	chr7:27150598-27150648	RPTEC	kidney:	n/a
27	chr7:27150598-27150648	GM19239	blood:	n/a
28	chr7:27150598-27150648	HRCEpiC	kidney:	n/a
29	chr7:27150598-27150648	HMEC	breast:	n/a
30	chr7:27150598-27150648	HCM	heart:	n/a
31	chr7:27150598-27150648	ProgFib	skin:	n/a
32	chr7:27150598-27150648	HIPEpiC	eye:	n/a
33	chr7:27150598-27150648	K562	blood:	n/a
34	chr7:27150598-27150648	AoSMC	blood vessel:	n/a
35	chr7:27150598-27150648	CMK	blood:	n/a
36	chr7:27150598-27150648	AG10803	skin:	n/a
37	chr7:27150598-27150648	GM06990	blood:	n/a
38	chr7:27150598-27150648	ECC-1	luminal epithelium:	n/a
39	chr7:27150598-27150648	GM12878	blood:	n/a
40	chr7:27150598-27150648	NT2-D1	testis:	n/a
41	chr7:27150598-27150648	HAEpiC	amniotic membrane:	n/a
42	chr7:27150598-27150648	LNCaP	prostate:	n/a
43	chr7:27150598-27150648	Jurkat	blood:	n/a
44	chr7:27150598-27150648	PrEC	prostate:	n/a
45	chr7:27150598-27150648	GM12891	blood:	n/a
46	chr7:27150598-27150648	NH-A	brain:	n/a
47	chr7:27150598-27150648	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:27150598-27150648	AG09319	gingival:	n/a
49	chr7:27150598-27150648	HUVEC	blood vessel:	n/a
50	chr7:27150598-27150648	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26902820..26904709-chr7:27149740..27152341,2	MCF-7	breast:
2	chr7:27150209..27152562-chr7:27153238..27155636,2	K562	blood:
3	chr7:27134944..27136463-chr7:27148714..27151131,2	MCF-7	breast:
4	7:27143270-27156413..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
HOXA-AS2	TF binding region
HOXA-AS2	CpG island
ENSG00000233429	Chromatin interaction
ENSG00000105997	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000105991	Chromatin interaction
ENSG00000005020	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10085570	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10225507	0.85[ASN][1000 genomes]
rs10238095	0.93[ASN][1000 genomes]
rs10246712	0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs11564055	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11762730	0.91[CHB][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs11983200	1.00[CEU][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12530948	0.93[ASN][1000 genomes]
rs12533947	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12666919	0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs12666926	0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs1548497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1725074	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17449108	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17471485	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17471520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1801085	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2107063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2285722	0.97[ASN][1000 genomes]
rs2301720	0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs2301721	0.91[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2428432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2428433	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2428434	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2465275	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2465276	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3735530	0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs3801320	0.97[ASN][1000 genomes]
rs3807597	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs3823764	0.91[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4722657	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4722659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4722666	0.89[ASN][1000 genomes]
rs61384251	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461987	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68021164	0.90[ASN][1000 genomes]
rs6948297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6962314	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6969780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6976129	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73071548	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071550	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341470	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs739734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7798733	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7811753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs875898	0.91[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs886339	0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs929249	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983184	0.93[ASN][1000 genomes]
rs983185	0.93[ASN][1000 genomes]
rs985652	0.83[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 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	nsv887858	chr7:27127231-27188659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	nsv606463	chr7:27135314-27182245	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
22	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
23	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
24	nsv887870	chr7:27136308-27154737	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	nsv887871	chr7:27136308-27179814	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS 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	53 gene(s)	inside rSNPs	diseases
26	nsv887872	chr7:27136308-27181437	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS 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	54 gene(s)	inside rSNPs	diseases
27	nsv887873	chr7:27136308-27186495	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
28	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
29	nsv606464	chr7:27138478-27168590	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6461985	HOXA2	Cis_1M	lymphoblastoid	RTeQTL
rs6461985	HOTAIRM1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27145600-27152400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:27145800-27151000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
3	chr7:27145800-27162800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:27146200-27151000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:27146400-27169600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:27146800-27159000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:27148000-27151000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:27148000-27152600	Weak transcription	Small Intestine	intestine
9	chr7:27149000-27151200	Enhancers	Spleen	Spleen
10	chr7:27149000-27153200	Enhancers	NHDF-Ad	bronchial
11	chr7:27149400-27150800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:27149800-27150800	Weak transcription	HepG2	liver
13	chr7:27149800-27151600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:27149800-27153000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:27150000-27150800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:27150000-27150800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:27150000-27151000	Active TSS	Esophagus	oesophagus
18	chr7:27150000-27151000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr7:27150000-27151000	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr7:27150000-27151000	Enhancers	Lung	lung
21	chr7:27150000-27151000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr7:27150000-27151400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:27150000-27151800	Flanking Active TSS	HMEC	breast
24	chr7:27150000-27152000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:27150000-27153000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:27150000-27153000	Flanking Active TSS	NHEK	skin
27	chr7:27150000-27153400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:27150000-27158400	Active TSS	Aorta	Aorta
29	chr7:27150200-27150800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:27150200-27150800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr7:27150200-27150800	Flanking Active TSS	Psoas Muscle	Psoas
32	chr7:27150200-27151000	Enhancers	HSMMtube	muscle
33	chr7:27150200-27151200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr7:27150200-27151200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr7:27150200-27151800	Flanking Active TSS	Osteobl	bone
36	chr7:27150400-27150800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:27150400-27151000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr7:27150400-27151200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:27150400-27151200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:27150400-27151400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr7:27150400-27151400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr7:27150400-27151400	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr7:27150400-27151600	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr7:27150400-27152200	Flanking Active TSS	A549	lung
45	chr7:27150400-27152600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr7:27150400-27152600	Enhancers	Colonic Mucosa	Colon
47	chr7:27150400-27152600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr7:27150400-27152600	Enhancers	Hela-S3	cervix
49	chr7:27150400-27152800	Weak transcription	Pancreas	Pancrea
50	chr7:27150400-27153000	Flanking Active TSS	HUVEC	blood vessel

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