Variant report

Variant	rs1119988
Chromosome Location	chr12:60787165-60787166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1021887	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10784046	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10877422	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11173418	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11173437	0.82[ASN][1000 genomes]
rs11173438	0.82[ASN][1000 genomes]
rs11173439	0.82[ASN][1000 genomes]
rs12228889	0.83[JPT][hapmap]
rs12231371	0.81[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap]
rs1319633	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1394328	0.83[JPT][hapmap]
rs1394330	0.83[JPT][hapmap]
rs1504459	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1504462	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1504463	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1504464	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1532811	0.83[JPT][hapmap]
rs1566846	0.83[ASN][1000 genomes]
rs1566847	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1580916	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1604865	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1604866	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1604867	0.83[JPT][hapmap]
rs1604868	0.83[JPT][hapmap]
rs1604869	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1827638	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1857730	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs1995514	0.91[EUR][1000 genomes]
rs2102257	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2102258	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2262939	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2363585	0.91[EUR][1000 genomes]
rs2363587	0.81[ASN][1000 genomes]
rs2455998	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2655842	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2655843	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2655846	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2655848	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2655856	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2655871	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2655886	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs2655893	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2655899	0.84[ASN][1000 genomes]
rs2731465	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2731487	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2731488	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2731491	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2731492	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4758863	0.83[JPT][hapmap]
rs7963214	0.84[ASN][1000 genomes]
rs7971143	0.84[ASN][1000 genomes]
rs7975549	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047466	chr12:60702221-61521156	Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60772400-60788000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60785200-60788800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:60787000-60787200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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