Variant report

Variant	rs781235
Chromosome Location	chr2:189677663-189677664
allele	G/T
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]
rs1201148	0.96[AFR][1000 genomes]
rs1201149	0.96[AFR][1000 genomes]
rs1211717	0.89[AFR][1000 genomes]
rs1518007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1607318	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1882678	0.96[AFR][1000 genomes]
rs2675403	0.96[AFR][1000 genomes]
rs2708211	0.96[AFR][1000 genomes]
rs2708212	0.96[AFR][1000 genomes]
rs2708213	0.96[AFR][1000 genomes]
rs6759257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781274	0.96[AFR][1000 genomes];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	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875607	chr2:189579045-189711790	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
4	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
5	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
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189672800-189678400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:189673000-189678400	Enhancers	Osteobl	bone
3	chr2:189674600-189677800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:189674600-189678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:189675400-189678600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:189675600-189679200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:189675800-189678600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:189676800-189677800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:189677200-189679000	Enhancers	NHDF-Ad	bronchial
10	chr2:189677400-189678400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:189677400-189679200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:189677400-189679200	Enhancers	HSMM	muscle
13	chr2:189677400-189680000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:189677600-189677800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:189677600-189678800	Enhancers	NH-A	brain
16	chr2:189677600-189679000	Enhancers	NHLF	lung

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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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