Variant report

Variant	rs1636594
Chromosome Location	chr7:80681259-80681260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10259820	0.94[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11767418	0.82[AFR][1000 genomes]
rs1208096	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1208097	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1208098	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1208099	0.94[CEU][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208100	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1208101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1208102	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12707153	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1528737	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1636549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1636551	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1636552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1636553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1636556	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1636557	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1636558	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636562	0.85[AMR][1000 genomes]
rs1636570	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1636574	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1636579	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1636581	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1729436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1729440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1729441	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1729445	0.85[AMR][1000 genomes]
rs1729455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1729456	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1729457	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2527855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2527858	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2527859	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34391690	0.95[ASN][1000 genomes]
rs35168626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728106	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs728107	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7789668	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs853072	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs853074	1.00[CEU][hapmap];0.98[GIH][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs853075	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs853076	0.94[CEU][hapmap];0.98[GIH][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs853077	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs853078	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs853079	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs853081	0.82[EUR][1000 genomes]
rs853082	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs853083	0.82[EUR][1000 genomes]
rs853084	0.82[EUR][1000 genomes]
rs853089	0.81[EUR][1000 genomes]
rs853091	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs853093	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs853094	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs853095	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs853096	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs853097	0.82[EUR][1000 genomes]
rs860464	0.82[EUR][1000 genomes]
rs9767867	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9767896	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv888551	chr7:80620397-80723062	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80665200-80684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80680200-80683400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:80680400-80682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:80680600-80682400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:80680600-80682400	Weak transcription	NHDF-Ad	bronchial
6	chr7:80680800-80683400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:80681000-80683000	Enhancers	HSMM	muscle
8	chr7:80681200-80682400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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