Variant report

Variant	rs2699893
Chromosome Location	chr3:178833002-178833003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13082485	0.97[ASN][1000 genomes]
rs13099856	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1517586	0.87[ASN][1000 genomes]
rs2542298	0.85[ASN][1000 genomes]
rs2677763	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2677764	0.97[ASN][1000 genomes]
rs2677770	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2699887	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2699891	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2699905	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2699906	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4955801	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784495	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73187259	0.97[ASN][1000 genomes]
rs9968179	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	52 gene(s)	inside rSNPs	diseases
3	nsv461026	chr3:178661814-178886609	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
4	nsv592649	chr3:178661814-178886609	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	esv1792927	chr3:178734558-178877169	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv1841799	chr3:178739594-178884337	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv878037	chr3:178825910-178871906	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178830800-178833800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:178832200-178834600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:178832400-178833400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:178832600-178834400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:178832800-178833400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:178832800-178833800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:178832800-178834000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:178832800-178834000	Enhancers	NHEK	skin
9	chr3:178833000-178833600	Enhancers	HMEC	breast
10	chr3:178833000-178833600	Enhancers	NH-A	brain
11	chr3:178833000-178834000	Enhancers	Osteobl	bone
12	chr3:178833000-178834200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:178833000-178834200	Enhancers	HUVEC	blood vessel
14	chr3:178833000-178834600	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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