Variant report

Variant	rs1517783
Chromosome Location	chr2:76986982-76986983
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10188955	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs10195937	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12612861	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618655	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12620459	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs12713883	0.89[CEU][hapmap];0.85[AMR][1000 genomes]
rs12995505	0.86[AMR][1000 genomes]
rs13008894	0.88[CEU][hapmap];0.85[AMR][1000 genomes]
rs13030721	0.88[CEU][hapmap];0.94[AMR][1000 genomes]
rs1914507	0.87[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2203925	1.00[AFR][1000 genomes]
rs56748866	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56961208	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59960669	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60881718	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6718624	0.88[CEU][hapmap];0.85[AMR][1000 genomes]
rs72917766	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7560515	0.88[CEU][hapmap];0.85[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	nsv582235	chr2:76881210-76997763	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv874320	chr2:76971709-77013724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
3	nsv458263	chr2:76976626-76994984	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
4	nsv1011401	chr2:76982546-77068714	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76973400-76989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:76979400-76988200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:76984200-76988600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:76985800-76988000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:76986200-76988200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:76986400-76987000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:76986600-76987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:76986600-76987600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:76986600-76987600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:76986600-76988000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:76986800-76987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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