Variant report

Variant	rs7812496
Chromosome Location	chr8:87755891-87755892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr8:87755694-87755915	T-47D	breast:	n/a	n/a
2	FOXA1	chr8:87755685-87756001	T-47D	breast:	n/a	n/a
3	STAT3	chr8:87755851-87755995	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:87755844-87755894	HepG2	liver:	n/a
2	chr8:87755844-87755894	GM06990	blood:	n/a
3	chr8:87755844-87755894	HMEC	breast:	n/a
4	chr8:87755844-87755894	HNPCEpiC	eye:	n/a
5	chr8:87755844-87755894	LNCaP	prostate:	n/a
6	chr8:87755844-87755894	SAEC	small airway:	n/a
7	chr8:87755844-87755894	Hepatocyte	liver:	n/a
8	chr8:87755844-87755894	HL-60	blood:	n/a
9	chr8:87755844-87755894	MCF-7	breast:	n/a
10	chr8:87755844-87755894	PANC-1	pancreas:	n/a
11	chr8:87755844-87755894	RPTEC	kidney:	n/a
12	chr8:87755844-87755894	NHBE	bronchial:	n/a
13	chr8:87755844-87755894	PFSK-1	brain:	n/a
14	chr8:87755844-87755894	HUVEC	blood vessel:	n/a
15	chr8:87755844-87755894	AG04450	lung:	fetal
16	chr8:87755844-87755894	HCPEpiC	choroid plexus:	n/a
17	chr8:87755844-87755894	BE2_C	brain:	n/a
18	chr8:87755844-87755894	ovcar-3	ovarian:	n/a
19	chr8:87755844-87755894	PrEC	prostate:	n/a
20	chr8:87755844-87755894	GM19239	blood:	n/a
21	chr8:87755844-87755894	HIPEpiC	eye:	n/a
22	chr8:87755844-87755894	GM12878	blood:	n/a
23	chr8:87755844-87755894	AoSMC	blood vessel:	n/a
24	chr8:87755844-87755894	HCF	heart:	n/a
25	chr8:87755844-87755894	A549	lung:	n/a
26	chr8:87755844-87755894	SK-N-SH_RA	brain:	n/a
27	chr8:87755844-87755894	ProgFib	skin:	n/a
28	chr8:87755844-87755894	Caco-2	colon:	n/a
29	chr8:87755844-87755894	K562	blood:	n/a
30	chr8:87755844-87755894	HAEpiC	amniotic membrane:	n/a
31	chr8:87755844-87755894	HCM	heart:	n/a
32	chr8:87755844-87755894	U87	brain:	n/a
33	chr8:87755844-87755894	AG09309	skin:	n/a
34	chr8:87755844-87755894	SK-N-MC	brain:	n/a
35	chr8:87755844-87755894	ECC-1	luminal epithelium:	n/a
36	chr8:87755844-87755894	BJ	skin:	n/a
37	chr8:87755844-87755894	MCF10A-Er-Src	breast:	n/a
38	chr8:87755844-87755894	NB4	blood:	n/a
39	chr8:87755844-87755894	GM12891	blood:	n/a
40	chr8:87755844-87755894	Jurkat	blood:	n/a
41	chr8:87755844-87755894	SK-N-SH	brain:	n/a
42	chr8:87755844-87755894	AG09319	gingival:	n/a
43	chr8:87755844-87755894	CMK	blood:	n/a
44	chr8:87755844-87755894	SKMC	muscle:	n/a
45	chr8:87755844-87755894	HRE	kidney:	n/a
46	chr8:87755844-87755894	H1-hESC	embryonic stem cell:	embryo
47	chr8:87755844-87755894	NT2-D1	testis:	n/a
48	chr8:87755844-87755894	IMR90	lung:	fetal
49	chr8:87755844-87755894	T-47D	breast:	n/a
50	chr8:87755844-87755894	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
CNGB3	TF binding region
CNGB3	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10100818	0.98[ASN][1000 genomes]
rs11786561	0.98[ASN][1000 genomes]
rs11987550	0.81[CHB][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11987618	1.00[ASN][1000 genomes]
rs11994555	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12544789	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12675704	0.98[ASN][1000 genomes]
rs12680558	1.00[ASN][1000 genomes]
rs16917366	0.98[ASN][1000 genomes]
rs16917385	0.98[ASN][1000 genomes]
rs17614056	1.00[ASN][1000 genomes]
rs4961213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4961215	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4961216	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs58824862	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60237266	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61185462	0.98[ASN][1000 genomes]
rs61227753	0.98[ASN][1000 genomes]
rs66524243	0.98[ASN][1000 genomes]
rs66881636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67190572	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67825168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68188370	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694154	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73274889	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73274899	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7825867	0.98[ASN][1000 genomes]
rs7842904	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv891151	chr8:87690019-87776019	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1026794	chr8:87698639-87957840	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539662	chr8:87698639-87957840	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv817372	chr8:87746712-88292389	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1015760	chr8:87750555-88304604	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87749400-87756000	Weak transcription	Fetal Lung	lung
2	chr8:87754400-87758000	Enhancers	Colon Smooth Muscle	Colon
3	chr8:87754800-87757400	Weak transcription	Fetal Stomach	stomach
4	chr8:87755600-87756600	Enhancers	Rectal Smooth Muscle	rectum
5	chr8:87755800-87756000	Enhancers	Fetal Kidney	kidney
6	chr8:87755800-87756400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links