Variant report

Variant	rs17012123
Chromosome Location	chr2:125638846-125638847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10165137	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10168923	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10185390	1.00[EUR][1000 genomes]
rs10191955	1.00[EUR][1000 genomes]
rs10210543	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13403519	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13407542	1.00[EUR][1000 genomes]
rs17012102	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17012116	0.85[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1840209	0.85[GIH][hapmap];1.00[TSI][hapmap]
rs1840210	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs55644023	1.00[EUR][1000 genomes]
rs56271052	1.00[EUR][1000 genomes]
rs57373389	1.00[EUR][1000 genomes]
rs7571244	1.00[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834360	chr2:125492685-125683200	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv834361	chr2:125601081-125810992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125636000-125641600	Weak transcription	Fetal Lung	lung
2	chr2:125637200-125639400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:125638400-125639000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:125638400-125639000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:125638400-125639200	Enhancers	Fetal Heart	heart
6	chr2:125638600-125639000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:125638600-125639200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:125638800-125639000	Enhancers	Pancreas	Pancrea
9	chr2:125638800-125639000	Enhancers	Stomach Mucosa	stomach

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

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