Variant report

Variant	rs57138748
Chromosome Location	chr2:56593027-56593028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13389257	1.00[EUR][1000 genomes]
rs13396099	1.00[EUR][1000 genomes]
rs13398499	1.00[EUR][1000 genomes]
rs13424203	1.00[EUR][1000 genomes]
rs13426375	1.00[EUR][1000 genomes]
rs13427586	1.00[EUR][1000 genomes]
rs13428678	1.00[EUR][1000 genomes]
rs17047868	1.00[EUR][1000 genomes]
rs28530709	1.00[EUR][1000 genomes]
rs28723570	1.00[EUR][1000 genomes]
rs4287805	1.00[EUR][1000 genomes]
rs56274428	1.00[EUR][1000 genomes]
rs6736677	1.00[EUR][1000 genomes]
rs7355401	1.00[EUR][1000 genomes]
rs73940673	1.00[EUR][1000 genomes]
rs73940701	1.00[EUR][1000 genomes]
rs73940702	1.00[EUR][1000 genomes]
rs7576776	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56576000-56603000	Weak transcription	HSMM	muscle
2	chr2:56576000-56613200	Weak transcription	Left Ventricle	heart

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

what's new

Quick links