Variant report

Variant	rs12058673
Chromosome Location	chr1:215739580-215739581
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12077184	1.00[ASN][1000 genomes]
rs12080379	1.00[CHB][hapmap];0.82[AMR][1000 genomes]
rs12080437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12119871	0.86[AFR][1000 genomes]
rs14137	0.87[YRI][hapmap]
rs2677111	0.83[YRI][hapmap]
rs2797393	0.95[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3411228	chr1:215704606-215742745	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3334079	chr1:215717606-215745691	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215730800-215740200	Weak transcription	Pancreas	Pancrea
2	chr1:215732000-215740200	Weak transcription	Stomach Mucosa	stomach
3	chr1:215739000-215739800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215739000-215739800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:215739000-215739800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:215739000-215740000	Enhancers	Fetal Intestine Large	intestine
7	chr1:215739200-215739800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:215739200-215739800	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:215739200-215739800	Enhancers	HepG2	liver
10	chr1:215739200-215740000	Enhancers	Fetal Lung	lung
11	chr1:215739200-215740000	Enhancers	Hela-S3	cervix
12	chr1:215739400-215739600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:215739400-215739800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:215739400-215739800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:215739400-215739800	Flanking Active TSS	NHDF-Ad	bronchial
16	chr1:215739400-215742200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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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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