Variant report

Variant	rs1672383
Chromosome Location	chr3:101631962-101631963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1672376	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1672379	0.80[ASN][1000 genomes]
rs1672382	0.82[ASN][1000 genomes]
rs1672384	0.82[ASN][1000 genomes]
rs1707600	0.80[AMR][1000 genomes]
rs1707610	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs771572	0.85[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap]
rs797867	0.80[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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv3351469	chr3:101511702-101866448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1010762	chr3:101584836-101803821	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1672383	ABI3BP	cis	cerebellum	SCAN
rs1672383	ALCAM	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101621200-101633600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:101621600-101632800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:101623000-101632200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:101631200-101633200	Enhancers	NHEK	skin
5	chr3:101631400-101633000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:101631400-101633200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:101631400-101633200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:101631600-101632400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:101631600-101633000	Enhancers	HMEC	breast
10	chr3:101631600-101633200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:101631800-101632400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:101631800-101633200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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