Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10506245	1.00[JPT][hapmap]
rs10506248	1.00[ASN][1000 genomes]
rs1527315	1.00[JPT][hapmap]
rs1716605	1.00[JPT][hapmap]
rs1716609	1.00[JPT][hapmap]
rs1726884	1.00[JPT][hapmap]
rs1726889	1.00[JPT][hapmap]
rs1798023	1.00[JPT][hapmap]
rs1798032	1.00[JPT][hapmap]
rs1798033	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4639992	1.00[JPT][hapmap]
rs4768559	1.00[JPT][hapmap]
rs7314412	1.00[JPT][hapmap]
rs7969466	1.00[JPT][hapmap]
rs7974460	1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs840772	1.00[CHB][hapmap]
rs840773	1.00[JPT][hapmap]
rs840774	1.00[JPT][hapmap]
rs859016	1.00[JPT][hapmap]
rs863482	1.00[JPT][hapmap]

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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
2	chr12:44772400-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44783000-44789400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44785800-44790000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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