Variant report

Variant	rs17114643
Chromosome Location	chr1:57393655-57393656
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57310579	0.93[AFR][1000 genomes]
rs598772	0.84[AFR][1000 genomes]
rs72915484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57391200-57400200	Weak transcription	HepG2	liver
2	chr1:57391600-57397000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:57391600-57397000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:57391800-57397000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:57392200-57397000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57392800-57393800	Enhancers	Brain Germinal Matrix	brain
7	chr1:57392800-57394600	Enhancers	Liver	Liver

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

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