Variant report

Variant	rs13392487
Chromosome Location	chr2:183238477-183238478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13406145	0.83[ASW][hapmap];0.97[LWK][hapmap];0.82[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417045	0.80[LWK][hapmap];0.96[YRI][hapmap]
rs1438071	0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr2:183235600-183243800	Weak transcription	Fetal Kidney	kidney
2	chr2:183236400-183240200	Weak transcription	Fetal Stomach	stomach
3	chr2:183236800-183238800	Enhancers	HUVEC	blood vessel
4	chr2:183237800-183238800	Enhancers	NHEK	skin
5	chr2:183238000-183243400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:183238200-183238600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:183238200-183239600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:183238200-183240200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:183238200-183240200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:183238200-183240200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:183238200-183240600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:183238200-183242400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:183238200-183243400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:183238200-183243800	Weak transcription	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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