Variant report

Variant	rs2702507
Chromosome Location	chr8:35979203-35979204
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:35979179-35979229	HRE	kidney:	n/a
2	chr8:35979179-35979229	ECC-1	luminal epithelium:	n/a
3	chr8:35979179-35979229	NT2-D1	testis:	n/a
4	chr8:35979179-35979229	HIPEpiC	eye:	n/a
5	chr8:35979179-35979229	A549	lung:	n/a
6	chr8:35979179-35979229	NB4	blood:	n/a
7	chr8:35979179-35979229	Hela-S3	cervix:	n/a
8	chr8:35979179-35979229	HEK293	kidney:	embryo
9	chr8:35979179-35979229	AG04449	skin:	fetal
10	chr8:35979179-35979229	SK-N-SH	brain:	n/a
11	chr8:35979179-35979229	AoSMC	blood vessel:	n/a
12	chr8:35979179-35979229	HL-60	blood:	n/a
13	chr8:35979179-35979229	HAEpiC	amniotic membrane:	n/a
14	chr8:35979179-35979229	SKMC	muscle:	n/a
15	chr8:35979179-35979229	HCM	heart:	n/a
16	chr8:35979179-35979229	U87	brain:	n/a
17	chr8:35979179-35979229	MCF10A-Er-Src	breast:	n/a
18	chr8:35979179-35979229	NHBE	bronchial:	n/a
19	chr8:35979179-35979229	HCF	heart:	n/a
20	chr8:35979179-35979229	AG09309	skin:	n/a
21	chr8:35979179-35979229	Hepatocyte	liver:	n/a
22	chr8:35979179-35979229	GM06990	blood:	n/a
23	chr8:35979179-35979229	SK-N-SH_RA	brain:	n/a
24	chr8:35979179-35979229	HRPEpiC	eye:	n/a
25	chr8:35979179-35979229	K562	blood:	n/a
26	chr8:35979179-35979229	BE2_C	brain:	n/a
27	chr8:35979179-35979229	PANC-1	pancreas:	n/a
28	chr8:35979179-35979229	ovcar-3	ovarian:	n/a
29	chr8:35979179-35979229	HCT-116	colon:	n/a
30	chr8:35979179-35979229	SAEC	small airway:	n/a
31	chr8:35979179-35979229	NHDF-neo	bronchial:	n/a
32	chr8:35979179-35979229	NH-A	brain:	n/a
33	chr8:35979179-35979229	AG10803	skin:	n/a
34	chr8:35979179-35979229	HCPEpiC	choroid plexus:	n/a
35	chr8:35979179-35979229	CMK	blood:	n/a
36	chr8:35979179-35979229	MCF-7	breast:	n/a
37	chr8:35979179-35979229	PrEC	prostate:	n/a
38	chr8:35979179-35979229	GM12892	blood:	n/a
39	chr8:35979179-35979229	HepG2	liver:	n/a
40	chr8:35979179-35979229	RPTEC	kidney:	n/a
41	chr8:35979179-35979229	BJ	skin:	n/a
42	chr8:35979179-35979229	GM19239	blood:	n/a
43	chr8:35979179-35979229	IMR90	lung:	fetal
44	chr8:35979179-35979229	SK-N-MC	brain:	n/a
45	chr8:35979179-35979229	H1-hESC	embryonic stem cell:	embryo
46	chr8:35979179-35979229	HMEC	breast:	n/a
47	chr8:35979179-35979229	HEEpiC	esophagus:	n/a
48	chr8:35979179-35979229	PFSK-1	brain:	n/a
49	chr8:35979179-35979229	AG04450	lung:	fetal
50	chr8:35979179-35979229	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ENSG00000254309	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1116486	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11992518	0.91[EUR][1000 genomes]
rs13263200	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2032081	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2032082	0.91[EUR][1000 genomes]
rs2507728	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702476	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702477	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2702501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2843920	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2843925	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2951810	0.91[EUR][1000 genomes]
rs2951811	0.91[EUR][1000 genomes]
rs2979561	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3015794	0.91[EUR][1000 genomes]
rs3015795	0.83[EUR][1000 genomes]
rs7459610	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1024552	chr8:35655964-36210907	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539548	chr8:35655964-36210907	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv890718	chr8:35948467-36224134	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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