Variant report

Variant	rs7426444
Chromosome Location	chr3:118914364-118914365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10511382	0.82[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes]
rs11927939	0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs12634868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13081519	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16829477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs16829479	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs3796356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796357	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4370022	0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs4687840	0.87[EUR][1000 genomes]
rs4687980	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs4687981	0.96[EUR][1000 genomes]
rs4687982	0.87[EUR][1000 genomes]
rs57258193	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58939003	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6438502	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6438506	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9840317	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv527259	chr3:118906442-118916627	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118901000-118924200	Weak transcription	Pancreas	Pancrea
2	chr3:118903400-118924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:118904600-118936400	Weak transcription	Gastric	stomach
4	chr3:118904800-118914400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:118908400-118928200	Weak transcription	Fetal Stomach	stomach
6	chr3:118909200-118914800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:118912600-118915200	Enhancers	NHDF-Ad	bronchial
9	chr3:118912800-118914400	Flanking Active TSS	A549	lung
10	chr3:118912800-118915000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:118912800-118915000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:118912800-118915200	Enhancers	NH-A	brain
13	chr3:118912800-118915400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:118913000-118914400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:118913000-118915200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:118913000-118915200	Enhancers	HMEC	breast
17	chr3:118913000-118915200	Enhancers	NHEK	skin
18	chr3:118913000-118915200	Enhancers	Osteobl	bone
19	chr3:118913200-118915200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:118913400-118915200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:118913400-118915800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:118913600-118915000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:118913600-118915200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:118913800-118922600	Weak transcription	Primary T cells from cord blood	blood
25	chr3:118914000-118918400	Weak transcription	Fetal Heart	heart
26	chr3:118914200-118915200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:118914200-118923800	Weak transcription	Stomach Mucosa	stomach

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