Variant report

Variant	rs213980
Chromosome Location	chr7:117252874-117252875
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:117251668-117255413..7:117341506-117356953	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000001626	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10249419	0.83[ASN][1000 genomes]
rs10266116	1.00[JPT][hapmap]
rs10276533	0.94[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10278481	0.83[ASN][1000 genomes]
rs1042180	1.00[JPT][hapmap];0.85[TSI][hapmap]
rs10953848	0.83[ASN][1000 genomes]
rs11767185	0.83[ASN][1000 genomes]
rs11768272	0.83[ASN][1000 genomes]
rs11772396	0.89[MEX][hapmap]
rs11974545	0.89[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12534210	0.83[ASN][1000 genomes]
rs12534233	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1429568	0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs17140297	1.00[JPT][hapmap];0.82[TSI][hapmap]
rs17140352	0.83[ASN][1000 genomes]
rs172507	0.89[MEX][hapmap]
rs17451754	0.88[MEX][hapmap]
rs17547853	0.88[MEX][hapmap]
rs17549557	0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs17550567	0.83[ASN][1000 genomes]
rs1800136	0.83[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap]
rs1966352	0.83[ASN][1000 genomes]
rs2059938	0.83[ASN][1000 genomes]
rs2079178	0.83[ASN][1000 genomes]
rs213945	0.89[MEX][hapmap]
rs213951	0.89[MEX][hapmap]
rs213979	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs213981	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213986	0.88[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs213988	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213989	0.86[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214163	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214164	0.95[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2188150	0.95[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213958	1.00[JPT][hapmap]
rs2518879	0.94[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34541842	0.83[ASN][1000 genomes]
rs34637736	0.83[ASN][1000 genomes]
rs34665848	0.83[ASN][1000 genomes]
rs35050470	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35216437	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35244428	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35454880	0.83[ASN][1000 genomes]
rs35871198	0.83[ASN][1000 genomes]
rs4500028	0.83[ASN][1000 genomes]
rs4727855	0.83[GIH][hapmap];0.96[TSI][hapmap]
rs4730795	0.83[ASN][1000 genomes]
rs4730797	0.83[ASN][1000 genomes]
rs4730798	0.83[ASN][1000 genomes]
rs4730801	0.83[ASN][1000 genomes]
rs4730802	0.83[ASN][1000 genomes]
rs6977789	0.83[ASN][1000 genomes]
rs6980032	1.00[JPT][hapmap];0.95[TSI][hapmap]
rs739797	0.83[ASN][1000 genomes]
rs739798	0.83[ASN][1000 genomes]
rs757278	0.83[ASN][1000 genomes]
rs7804816	0.83[ASN][1000 genomes]

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	nsv889083	chr7:117203417-117256374	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs213980	CTTNBP2	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117244200-117253200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:117245200-117294000	Weak transcription	Pancreas	Pancrea
3	chr7:117245800-117256600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:117246400-117255600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:117251000-117253200	Genic enhancers	Fetal Intestine Large	intestine
6	chr7:117252600-117253000	Enhancers	Dnd41	blood
7	chr7:117252600-117253200	Genic enhancers	Fetal Intestine Small	intestine
8	chr7:117252600-117253200	Enhancers	Placenta	Placenta
9	chr7:117252600-117253200	Genic enhancers	Rectal Mucosa Donor 31	rectum
10	chr7:117252600-117253600	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:117252800-117253200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:117252800-117253200	Enhancers	Small Intestine	intestine

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