Variant report

Variant	rs7643067
Chromosome Location	chr3:111479048-111479049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10934104	0.91[AMR][1000 genomes]
rs11709591	0.91[AMR][1000 genomes]
rs12638437	0.91[AMR][1000 genomes]
rs1398749	1.00[ASN][1000 genomes]
rs1398752	0.91[AMR][1000 genomes]
rs1398755	0.91[AMR][1000 genomes]
rs1513332	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1513333	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35840064	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35894167	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234402	1.00[ASN][1000 genomes]
rs4682062	1.00[ASN][1000 genomes]
rs4682297	0.91[AMR][1000 genomes]
rs4682300	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4682301	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57628489	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60556634	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768082	0.91[AMR][1000 genomes]
rs6791600	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800228	0.91[AMR][1000 genomes]
rs7427989	0.91[AMR][1000 genomes]
rs7620801	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7636559	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7640416	0.91[AMR][1000 genomes]
rs7642808	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7648126	0.91[AMR][1000 genomes]
rs7650348	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7651391	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653881	0.91[AMR][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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111471000-111480200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:111471200-111479800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:111471200-111480000	Weak transcription	HSMM	muscle
4	chr3:111471400-111479800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:111471400-111480000	Weak transcription	NH-A	brain
6	chr3:111477400-111481800	Weak transcription	Left Ventricle	heart
7	chr3:111477600-111479800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:111477600-111479800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:111477600-111480000	Enhancers	NHEK	skin
10	chr3:111477600-111484600	Enhancers	HMEC	breast
11	chr3:111477800-111479800	Enhancers	Liver	Liver
12	chr3:111478000-111480200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:111478000-111484600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:111478200-111479600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr3:111478600-111479200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:111478800-111479200	Enhancers	HepG2	liver
17	chr3:111478800-111479400	Enhancers	A549	lung
18	chr3:111478800-111480000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:111478800-111480000	Enhancers	NHDF-Ad	bronchial
20	chr3:111478800-111480600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:111478800-111484200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:111478800-111484200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:111478800-111484800	Enhancers	Rectal Smooth Muscle	rectum
24	chr3:111479000-111480000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:111479000-111480800	Weak transcription	Adipose Nuclei	Adipose

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