Variant report

Variant	rs12699994
Chromosome Location	chr7:18895297-18895298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10230371	0.96[MEX][hapmap]
rs10237149	0.95[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.86[ASN][1000 genomes]
rs10237280	0.95[CHB][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.85[ASN][1000 genomes]
rs10237366	0.95[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10486314	0.86[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.83[ASN][1000 genomes]
rs11761877	0.86[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12536081	0.84[ASN][1000 genomes]
rs12540774	0.83[EUR][1000 genomes]
rs12699999	0.87[ASN][1000 genomes]
rs12700000	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12700003	0.83[MEX][hapmap]
rs13233322	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs13238389	0.83[EUR][1000 genomes]
rs13242358	0.85[ASN][1000 genomes]
rs13242758	0.81[AMR][1000 genomes]
rs13245206	0.96[MEX][hapmap]
rs17349860	0.80[GIH][hapmap];0.86[TSI][hapmap];0.81[YRI][hapmap];0.81[EUR][1000 genomes]
rs2016515	0.80[GIH][hapmap]
rs2028015	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.84[TSI][hapmap];0.88[ASN][1000 genomes]
rs2073963	0.82[TSI][hapmap]
rs2073964	0.91[CEU][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs2073965	0.80[EUR][1000 genomes]
rs2249817	0.92[MEX][hapmap]
rs2286213	0.86[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3852256	0.82[GIH][hapmap];0.81[EUR][1000 genomes]
rs3852257	0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs55761404	0.87[ASN][1000 genomes]
rs60976379	0.83[ASN][1000 genomes]
rs6461385	0.82[EUR][1000 genomes]
rs6461387	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[ASN][1000 genomes]
rs6461389	0.80[GIH][hapmap];0.96[MEX][hapmap]
rs6461394	0.92[MEX][hapmap]
rs67248060	0.91[ASN][1000 genomes]
rs6951522	0.82[GIH][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs6951745	0.82[GIH][hapmap];0.92[MEX][hapmap]
rs756853	0.80[MEX][hapmap]
rs7794241	0.86[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7801037	0.94[ASN][1000 genomes]
rs957958	0.87[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr7:18890200-18895600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:18894600-18896200	Enhancers	NHDF-Ad	bronchial
3	chr7:18894600-18896600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:18895000-18895400	Enhancers	Aorta	Aorta
5	chr7:18895000-18896800	Enhancers	Osteobl	bone
6	chr7:18895200-18895600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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