Variant report

Variant	rs6729159
Chromosome Location	chr2:189767601-189767602
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1607317	1.00[AMR][1000 genomes]
rs4433942	1.00[AMR][1000 genomes]
rs57700307	1.00[AMR][1000 genomes]
rs58586214	1.00[AMR][1000 genomes]
rs58783235	1.00[AMR][1000 genomes]
rs59590091	1.00[AMR][1000 genomes]
rs60600397	1.00[AMR][1000 genomes]
rs60773337	1.00[AMR][1000 genomes]
rs6714395	1.00[AMR][1000 genomes]
rs6736507	1.00[AMR][1000 genomes]
rs6741189	1.00[AMR][1000 genomes]
rs7594722	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875608	chr2:189753823-189837995	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189763000-189767800	Weak transcription	Fetal Stomach	stomach
2	chr2:189763000-189767800	Weak transcription	Ovary	ovary
3	chr2:189763000-189767800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:189763400-189767800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:189764600-189767800	Weak transcription	NHLF	lung
6	chr2:189765800-189767800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:189766400-189768000	Enhancers	Colon Smooth Muscle	Colon
8	chr2:189766600-189768200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:189767200-189768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:189767200-189768200	Enhancers	HUVEC	blood vessel
11	chr2:189767400-189768200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:189767600-189768000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:189767600-189768000	Enhancers	Fetal Lung	lung
14	chr2:189767600-189768000	Flanking Active TSS	NHDF-Ad	bronchial
15	chr2:189767600-189768200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:189767600-189768200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:189767600-189768200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:189767600-189768200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:189767600-189768200	Enhancers	HSMM	muscle
20	chr2:189767600-189768200	Enhancers	NHEK	skin

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