Variant report

Variant	rs1491958
Chromosome Location	chr3:46122881-46122882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10433607	0.85[ASN][1000 genomes]
rs13320534	0.83[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs1388602	0.89[ASN][1000 genomes]
rs1491953	0.85[ASN][1000 genomes]
rs1491955	1.00[AFR][1000 genomes]
rs62243871	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62243872	0.90[EUR][1000 genomes]
rs62243875	0.91[ASN][1000 genomes]
rs62243876	0.91[ASN][1000 genomes]
rs62243906	0.86[ASN][1000 genomes]
rs6807854	0.87[ASN][1000 genomes]
rs9819419	0.82[ASN][1000 genomes]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46120000-46124000	Enhancers	Fetal Lung	lung
2	chr3:46120400-46123000	Enhancers	NHDF-Ad	bronchial
3	chr3:46120600-46127200	Weak transcription	Fetal Stomach	stomach
4	chr3:46120800-46127000	Weak transcription	HSMMtube	muscle
5	chr3:46120800-46129400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:46121400-46123000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:46121400-46123200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:46121400-46126800	Weak transcription	Fetal Thymus	thymus
9	chr3:46121600-46123000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:46121600-46125800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:46121800-46123000	Enhancers	Hela-S3	cervix
12	chr3:46121800-46126000	Enhancers	NHEK	skin
13	chr3:46122200-46123000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:46122200-46123400	Enhancers	Adipose Nuclei	Adipose
15	chr3:46122400-46123200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:46122400-46125400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:46122600-46125200	Enhancers	Placenta	Placenta
18	chr3:46122600-46127000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:46122800-46123200	Weak transcription	HMEC	breast
20	chr3:46122800-46123600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr3:46122800-46123800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:46122800-46126600	Weak transcription	Ovary	ovary

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