Variant report

Variant	rs60002939
Chromosome Location	chr7:63334727-63334728
allele	A/G
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	chr7:63334719-63334769	PrEC	prostate:	n/a
2	chr7:63334719-63334769	A549	lung:	n/a
3	chr7:63334719-63334769	AG09309	skin:	n/a
4	chr7:63334719-63334769	SK-N-SH_RA	brain:	n/a
5	chr7:63334719-63334769	ProgFib	skin:	n/a
6	chr7:63334719-63334769	SAEC	small airway:	n/a
7	chr7:63334719-63334769	HEEpiC	esophagus:	n/a
8	chr7:63334719-63334769	NT2-D1	testis:	n/a
9	chr7:63334719-63334769	H1-hESC	embryonic stem cell:	embryo
10	chr7:63334719-63334769	NH-A	brain:	n/a
11	chr7:63334719-63334769	AoSMC	blood vessel:	n/a
12	chr7:63334719-63334769	Hela-S3	cervix:	n/a
13	chr7:63334719-63334769	HAEpiC	amniotic membrane:	n/a
14	chr7:63334719-63334769	HRE	kidney:	n/a
15	chr7:63334719-63334769	HCF	heart:	n/a
16	chr7:63334719-63334769	PANC-1	pancreas:	n/a
17	chr7:63334719-63334769	U87	brain:	n/a
18	chr7:63334719-63334769	HMEC	breast:	n/a
19	chr7:63334719-63334769	HUVEC	blood vessel:	n/a
20	chr7:63334719-63334769	AG10803	skin:	n/a
21	chr7:63334719-63334769	Hepatocyte	liver:	n/a
22	chr7:63334719-63334769	NHBE	bronchial:	n/a
23	chr7:63334719-63334769	MCF-7	breast:	n/a
24	chr7:63334719-63334769	RPTEC	kidney:	n/a
25	chr7:63334719-63334769	AG09319	gingival:	n/a
26	chr7:63334719-63334769	GM12891	blood:	n/a
27	chr7:63334719-63334769	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:63334719-63334769	MCF10A-Er-Src	breast:	n/a
29	chr7:63334719-63334769	SK-N-SH	brain:	n/a
30	chr7:63334719-63334769	ovcar-3	ovarian:	n/a
31	chr7:63334719-63334769	Jurkat	blood:	n/a
32	chr7:63334719-63334769	HCPEpiC	choroid plexus:	n/a
33	chr7:63334719-63334769	HRPEpiC	eye:	n/a
34	chr7:63334719-63334769	HCT-116	colon:	n/a
35	chr7:63334719-63334769	NHDF-neo	bronchial:	n/a
36	chr7:63334719-63334769	ECC-1	luminal epithelium:	n/a
37	chr7:63334719-63334769	GM12892	blood:	n/a
38	chr7:63334719-63334769	GM06990	blood:	n/a
39	chr7:63334719-63334769	BE2_C	brain:	n/a
40	chr7:63334719-63334769	HCM	heart:	n/a
41	chr7:63334719-63334769	T-47D	breast:	n/a
42	chr7:63334719-63334769	K562	blood:	n/a
43	chr7:63334719-63334769	HNPCEpiC	eye:	n/a
44	chr7:63334719-63334769	Caco-2	colon:	n/a
45	chr7:63334719-63334769	HL-60	blood:	n/a
46	chr7:63334719-63334769	CMK	blood:	n/a
47	chr7:63334719-63334769	AG04449	skin:	fetal
48	chr7:63334719-63334769	HRCEpiC	kidney:	n/a
49	chr7:63334719-63334769	HEK293	kidney:	embryo
50	chr7:63334719-63334769	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000225451	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10225389	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10276565	0.80[ASN][1000 genomes]
rs10280778	0.95[EUR][1000 genomes]
rs2056007	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2056008	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2901969	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3478284	chr7:62531504-63351786	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
2	esv3478287	chr7:62531504-63351786	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1016602	chr7:62623431-63339807	ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv888256	chr7:63201491-63343473	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
6	nsv888257	chr7:63226279-63464342	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv888258	chr7:63294907-63537173	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv970853	chr7:63331253-63339310	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 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
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