Variant report

Variant	rs7971143
Chromosome Location	chr12:60813415-60813416
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1021887	0.81[CHB][hapmap]
rs10877422	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs10877431	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10877432	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11173418	0.80[ASN][1000 genomes]
rs1119988	0.84[ASN][1000 genomes]
rs1319633	0.80[ASN][1000 genomes]
rs1504459	0.86[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs1504462	0.80[ASN][1000 genomes]
rs1504463	0.80[ASN][1000 genomes]
rs1504464	0.80[ASN][1000 genomes]
rs1566846	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1566847	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs1580916	0.86[ASN][1000 genomes]
rs1604865	0.82[ASN][1000 genomes]
rs1827638	0.86[ASN][1000 genomes]
rs1857730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2102257	0.82[ASN][1000 genomes]
rs2102258	0.81[CHB][hapmap]
rs2262939	0.85[ASN][1000 genomes]
rs2455998	0.81[ASN][1000 genomes]
rs2655842	0.83[ASN][1000 genomes]
rs2655843	0.83[ASN][1000 genomes]
rs2655846	0.83[ASN][1000 genomes]
rs2655848	0.85[ASN][1000 genomes]
rs2655856	0.86[ASN][1000 genomes]
rs2655871	0.85[ASN][1000 genomes]
rs2655886	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2655893	0.82[ASN][1000 genomes]
rs2655899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731465	0.87[ASN][1000 genomes]
rs2731487	0.83[ASN][1000 genomes]
rs2731488	0.83[ASN][1000 genomes]
rs2731491	0.81[ASN][1000 genomes]
rs2731492	0.83[ASN][1000 genomes]
rs7963214	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979532	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	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
2	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
3	nsv832432	chr12:60801619-60968907	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60810400-60819400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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