Variant report

Variant	rs10953856
Chromosome Location	chr7:117517293-117517294
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:1)
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	chr7:117517248-117517298	CMK	blood:	n/a
2	chr7:117517248-117517298	Caco-2	colon:	n/a
3	chr7:117517248-117517298	HRPEpiC	eye:	n/a
4	chr7:117517248-117517298	ovcar-3	ovarian:	n/a
5	chr7:117517248-117517298	A549	lung:	n/a
6	chr7:117517248-117517298	HEK293	kidney:	embryo
7	chr7:117517248-117517298	SKMC	muscle:	n/a
8	chr7:117517248-117517298	HepG2	liver:	n/a
9	chr7:117517248-117517298	HAEpiC	amniotic membrane:	n/a
10	chr7:117517248-117517298	IMR90	lung:	fetal
11	chr7:117517248-117517298	HUVEC	blood vessel:	n/a
12	chr7:117517248-117517298	H1-hESC	embryonic stem cell:	embryo
13	chr7:117517248-117517298	HNPCEpiC	eye:	n/a
14	chr7:117517248-117517298	AG09309	skin:	n/a
15	chr7:117517248-117517298	GM06990	blood:	n/a
16	chr7:117517248-117517298	NT2-D1	testis:	n/a
17	chr7:117517248-117517298	MCF-7	breast:	n/a
18	chr7:117517248-117517298	AG04450	lung:	fetal
19	chr7:117517248-117517298	HCF	heart:	n/a
20	chr7:117517248-117517298	HRE	kidney:	n/a
21	chr7:117517248-117517298	AG09319	gingival:	n/a
22	chr7:117517248-117517298	GM12891	blood:	n/a
23	chr7:117517248-117517298	PANC-1	pancreas:	n/a
24	chr7:117517248-117517298	AoSMC	blood vessel:	n/a
25	chr7:117517248-117517298	HEEpiC	esophagus:	n/a
26	chr7:117517248-117517298	Hela-S3	cervix:	n/a
27	chr7:117517248-117517298	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:117517248-117517298	HCPEpiC	choroid plexus:	n/a
29	chr7:117517248-117517298	HL-60	blood:	n/a
30	chr7:117517248-117517298	GM19239	blood:	n/a
31	chr7:117517248-117517298	SK-N-SH_RA	brain:	n/a
32	chr7:117517248-117517298	T-47D	breast:	n/a
33	chr7:117517248-117517298	HCT-116	colon:	n/a
34	chr7:117517248-117517298	AG04449	skin:	fetal
35	chr7:117517248-117517298	LNCaP	prostate:	n/a
36	chr7:117517248-117517298	HCM	heart:	n/a
37	chr7:117517248-117517298	MCF10A-Er-Src	breast:	n/a
38	chr7:117517248-117517298	NH-A	brain:	n/a
39	chr7:117517248-117517298	U87	brain:	n/a
40	chr7:117517248-117517298	NHBE	bronchial:	n/a
41	chr7:117517248-117517298	ECC-1	luminal epithelium:	n/a
42	chr7:117517248-117517298	SK-N-MC	brain:	n/a
43	chr7:117517248-117517298	SK-N-SH	brain:	n/a
44	chr7:117517248-117517298	PFSK-1	brain:	n/a
45	chr7:117517248-117517298	GM12878	blood:	n/a
46	chr7:117517248-117517298	RPTEC	kidney:	n/a
47	chr7:117517248-117517298	NHDF-neo	bronchial:	n/a
48	chr7:117517248-117517298	HRCEpiC	kidney:	n/a
49	chr7:117517248-117517298	AG10803	skin:	n/a
50	chr7:117517248-117517298	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:115890993-115892266..7:117514740-117523593	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
CTTNBP2	CpG island
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10428901	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10429259	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11970916	0.95[JPT][hapmap]
rs12113597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532378	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533586	0.84[GIH][hapmap];0.95[JPT][hapmap]
rs12667491	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476518	0.95[JPT][hapmap]
rs17140462	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17140498	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2160556	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2193256	0.95[JPT][hapmap]
rs34401510	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35811430	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730808	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4730809	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965740	0.93[ASW][hapmap];0.82[YRI][hapmap]
rs7784966	0.95[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117514000-117524000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:117515000-117517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:117515000-117517800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:117515200-117518000	Enhancers	Fetal Brain Female	brain
5	chr7:117516000-117517600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:117516000-117517600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:117516000-117517600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:117516200-117517600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:117516600-117518000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr7:117517000-117518400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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