Variant report

Variant	rs7341470
Chromosome Location	chr7:27184842-27184843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr7:27184180-27185984	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:27184518-27184913	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:27172709-27186093	IMR90	lung:	n/a	n/a
4	POLR2A	chr7:27184359-27184974	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr7:27184762-27184849	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr7:27182376-27184899	HEK293	kidney:	n/a	n/a
7	CHD1	chr7:27172934-27188024	IMR90	lung:	n/a	chr7:27183718-27183728 chr7:27179430-27179440

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27184821-27184871	SK-N-SH_RA	brain:	n/a
2	chr7:27184821-27184871	HRE	kidney:	n/a
3	chr7:27184821-27184871	GM12892	blood:	n/a
4	chr7:27184821-27184871	HCPEpiC	choroid plexus:	n/a
5	chr7:27184821-27184871	AG04450	lung:	fetal
6	chr7:27184821-27184871	HRPEpiC	eye:	n/a
7	chr7:27184821-27184871	MCF10A-Er-Src	breast:	n/a
8	chr7:27184821-27184871	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:27184821-27184871	HL-60	blood:	n/a
10	chr7:27184821-27184871	LNCaP	prostate:	n/a
11	chr7:27184821-27184871	HRCEpiC	kidney:	n/a
12	chr7:27184821-27184871	BE2_C	brain:	n/a
13	chr7:27184821-27184871	HCM	heart:	n/a
14	chr7:27184821-27184871	HAEpiC	amniotic membrane:	n/a
15	chr7:27184821-27184871	PFSK-1	brain:	n/a
16	chr7:27184821-27184871	GM12891	blood:	n/a
17	chr7:27184821-27184871	HUVEC	blood vessel:	n/a
18	chr7:27184821-27184871	AoSMC	blood vessel:	n/a
19	chr7:27184821-27184871	IMR90	lung:	fetal
20	chr7:27184821-27184871	AG09309	skin:	n/a
21	chr7:27184821-27184871	SAEC	small airway:	n/a
22	chr7:27184821-27184871	RPTEC	kidney:	n/a
23	chr7:27184821-27184871	GM06990	blood:	n/a
24	chr7:27184821-27184871	K562	blood:	n/a
25	chr7:27184821-27184871	Jurkat	blood:	n/a
26	chr7:27184821-27184871	AG04449	skin:	fetal
27	chr7:27184821-27184871	ECC-1	luminal epithelium:	n/a
28	chr7:27184821-27184871	SK-N-MC	brain:	n/a
29	chr7:27184821-27184871	NB4	blood:	n/a
30	chr7:27184821-27184871	HEEpiC	esophagus:	n/a
31	chr7:27184821-27184871	HCF	heart:	n/a
32	chr7:27184821-27184871	HepG2	liver:	n/a
33	chr7:27184821-27184871	HIPEpiC	eye:	n/a
34	chr7:27184821-27184871	AG09319	gingival:	n/a
35	chr7:27184821-27184871	SK-N-SH	brain:	n/a
36	chr7:27184821-27184871	Hela-S3	cervix:	n/a
37	chr7:27184821-27184871	AG10803	skin:	n/a
38	chr7:27184821-27184871	HEK293	kidney:	embryo
39	chr7:27184821-27184871	Hepatocyte	liver:	n/a
40	chr7:27184821-27184871	HMEC	breast:	n/a
41	chr7:27184821-27184871	ProgFib	skin:	n/a
42	chr7:27184821-27184871	H1-hESC	embryonic stem cell:	embryo
43	chr7:27184821-27184871	SKMC	muscle:	n/a
44	chr7:27184821-27184871	NHBE	bronchial:	n/a
45	chr7:27184821-27184871	Caco-2	colon:	n/a
46	chr7:27184821-27184871	ovcar-3	ovarian:	n/a
47	chr7:27184821-27184871	PANC-1	pancreas:	n/a
48	chr7:27184821-27184871	T-47D	breast:	n/a
49	chr7:27184821-27184871	NHDF-neo	bronchial:	n/a
50	chr7:27184821-27184871	MCF-7	breast:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26903484..26905321-chr7:27183031..27185507,2	MCF-7	breast:
2	7:27082525-27089724..7:27181770-27195105	Hela-S3	cervix:
3	7:27181770-27195105..7:27230275-27238414	GM12878	blood:
4	7:27162022-27164727..7:27181770-27195105	H1-hESC	embryonic stem cell:	embryo
5	chr7:26721768..26723951-chr7:27183878..27185970,2	MCF-7	breast:

No data

Variant related genes	Relation type
HOXA-AS3	TF binding region
HOXA5	TF binding region
HOXA3	TF binding region
HOXA5	CpG island
HOXA-AS3	CpG island
HOXA3	CpG island
ENSG00000213786	Chromatin interaction
ENSG00000253508	Chromatin interaction
ENSG00000243766	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000005020	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10085570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10225507	0.83[ASN][1000 genomes]
rs10238095	0.97[ASN][1000 genomes]
rs10246712	0.92[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs11564055	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs11762730	0.92[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11983200	0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs12530948	0.97[ASN][1000 genomes]
rs12533947	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs12666919	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12666926	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548497	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.96[ASN][1000 genomes]
rs1725074	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs17449108	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs17471485	1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs17471520	1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs1801085	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs1859166	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs2107063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285722	0.93[ASN][1000 genomes]
rs2301720	0.92[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs2301721	0.85[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2428432	1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs2428433	1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs2428434	1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs2465275	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs2465276	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs3735530	0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3801320	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3807597	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs3823764	0.85[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4722657	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4722659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4722666	0.93[ASN][1000 genomes]
rs61384251	0.93[ASN][1000 genomes]
rs6461985	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs6461987	1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[ASN][1000 genomes]
rs68021164	0.94[ASN][1000 genomes]
rs6948297	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs6957209	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs6962314	0.97[ASN][1000 genomes]
rs6969780	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs6973182	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs6976129	0.91[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs73071548	0.96[ASN][1000 genomes]
rs73071550	0.96[ASN][1000 genomes]
rs739734	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs7798733	0.96[ASN][1000 genomes]
rs7801565	1.00[CHB][hapmap]
rs7811753	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap]
rs875898	0.91[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs886339	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs929249	1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.97[ASN][1000 genomes]
rs983184	0.85[CEU][hapmap];0.97[ASN][1000 genomes]
rs983185	0.97[ASN][1000 genomes]
rs985652	0.85[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:40 , 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	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7341470	DFNA5	cis	cerebellum	SCAN
rs7341470	HOTAIRM1	cis	lung	GTEx
rs7341470	HOXA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27180600-27185600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr7:27181400-27185400	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
3	chr7:27181600-27185800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:27181800-27190400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
5	chr7:27182200-27186000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:27183000-27185400	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
7	chr7:27183000-27186400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
8	chr7:27183200-27185600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
9	chr7:27183200-27186000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
10	chr7:27183200-27186200	Weak transcription	Psoas Muscle	Psoas
11	chr7:27183200-27186800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:27183200-27186800	Strong transcription	Dnd41	blood
13	chr7:27183400-27185800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:27183400-27186400	Strong transcription	Osteobl	bone
15	chr7:27183400-27186600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:27183400-27187200	Weak transcription	HSMMtube	muscle
17	chr7:27183400-27187800	Weak transcription	HepG2	liver
18	chr7:27183600-27185000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
19	chr7:27183600-27185000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr7:27183600-27185400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:27183600-27185400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:27183600-27185400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:27183600-27185800	Flanking Active TSS	HMEC	breast
24	chr7:27183600-27186000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:27183600-27186000	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
26	chr7:27183600-27186400	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:27183600-27190400	Flanking Active TSS	HUVEC	blood vessel
28	chr7:27183800-27185000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:27183800-27186400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr7:27183800-27187400	Weak transcription	Aorta	Aorta
31	chr7:27183800-27187800	Weak transcription	Hela-S3	cervix
32	chr7:27184000-27185800	Active TSS	Fetal Kidney	kidney
33	chr7:27184000-27188600	Weak transcription	A549	lung
34	chr7:27184200-27185000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:27184200-27185800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:27184200-27185800	Transcr. at gene 5' and 3'	NHEK	skin
37	chr7:27184200-27186200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:27184200-27186600	Weak transcription	NHDF-Ad	bronchial
39	chr7:27184200-27186800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
40	chr7:27184400-27185000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:27184400-27185000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr7:27184400-27185000	Bivalent Enhancer	Stomach Mucosa	stomach
43	chr7:27184400-27185000	Transcr. at gene 5' and 3'	NHLF	lung
44	chr7:27184400-27185200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr7:27184400-27185400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr7:27184400-27186000	Active TSS	Lung	lung
47	chr7:27184600-27185400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:27184600-27185400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr7:27184600-27185400	Bivalent Enhancer	Right Ventricle	heart
50	chr7:27184600-27188200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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