Variant report

Variant	rs10518794
Chromosome Location	chr2:56181868-56181869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10469935	0.92[GIH][hapmap];0.83[TSI][hapmap]
rs13429887	0.84[EUR][1000 genomes]
rs14282	0.84[EUR][1000 genomes]
rs4672079	0.87[AFR][1000 genomes]
rs55676306	0.89[EUR][1000 genomes]
rs55749412	1.00[EUR][1000 genomes]
rs55811442	1.00[EUR][1000 genomes]
rs55845766	1.00[EUR][1000 genomes]
rs55886642	0.84[EUR][1000 genomes]
rs55912959	0.85[EUR][1000 genomes]
rs56058144	0.89[EUR][1000 genomes]
rs56195925	0.85[EUR][1000 genomes]
rs56309449	0.89[EUR][1000 genomes]
rs56412571	1.00[EUR][1000 genomes]
rs6718023	0.92[GIH][hapmap];0.83[TSI][hapmap]
rs6737397	0.92[GIH][hapmap];0.83[TSI][hapmap]
rs72811719	0.84[EUR][1000 genomes]
rs72813864	0.89[EUR][1000 genomes]
rs72813868	0.89[EUR][1000 genomes]
rs72813873	0.89[EUR][1000 genomes]
rs72813875	0.89[EUR][1000 genomes]
rs72813877	0.89[EUR][1000 genomes]
rs72813878	0.85[EUR][1000 genomes]
rs72813879	0.89[EUR][1000 genomes]
rs72813880	0.89[EUR][1000 genomes]
rs72813884	0.85[EUR][1000 genomes]
rs72813888	0.85[EUR][1000 genomes]
rs72813889	0.89[EUR][1000 genomes]
rs72813894	0.89[EUR][1000 genomes]
rs7600678	0.85[EUR][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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv874161	chr2:56154316-56203798	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56171000-56185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:56178000-56185200	Weak transcription	Right Atrium	heart
3	chr2:56180000-56188800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:56180200-56183800	Weak transcription	Ovary	ovary
5	chr2:56181200-56182600	Enhancers	Fetal Lung	lung
6	chr2:56181400-56182000	Enhancers	Adipose Nuclei	Adipose
7	chr2:56181400-56182000	Bivalent Enhancer	NHDF-Ad	bronchial
8	chr2:56181400-56182400	Active TSS	Stomach Smooth Muscle	stomach
9	chr2:56181400-56182400	Enhancers	HUVEC	blood vessel
10	chr2:56181400-56182600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:56181400-56182600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:56181400-56182600	Enhancers	Hela-S3	cervix
13	chr2:56181600-56182600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:56181600-56182600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:56181800-56182200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:56181800-56182400	Enhancers	NH-A	brain
17	chr2:56181800-56182600	Flanking Active TSS	Osteobl	bone

Quick Search:

Input of quick search could be:

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

what's new

Quick links