Variant report

Variant	rs1469513
Chromosome Location	chr2:21259562-21259563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10199768	0.87[ASW][hapmap];0.89[CEU][hapmap];0.83[GIH][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10205849	0.87[YRI][hapmap]
rs11901649	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713554	0.82[YRI][hapmap]
rs13392272	0.82[AFR][1000 genomes]
rs1367117	0.90[JPT][hapmap]
rs520354	0.90[CHD][hapmap]
rs588245	0.81[JPT][hapmap]
rs679899	0.90[CHD][hapmap]
rs693	1.00[ASW][hapmap];0.87[LWK][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs952275	0.82[AFR][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:21234800-21262200	Weak transcription	Ovary	ovary
2	chr2:21235000-21261800	Strong transcription	Fetal Intestine Large	intestine
3	chr2:21254400-21262000	Strong transcription	Fetal Intestine Small	intestine
4	chr2:21255200-21260600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr2:21255400-21262800	Weak transcription	Right Atrium	heart
6	chr2:21256200-21261400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:21256600-21266400	Transcr. at gene 5' and 3'	HepG2	liver
8	chr2:21257200-21260600	Weak transcription	Left Ventricle	heart
9	chr2:21258400-21259800	Genic enhancers	Aorta	Aorta
10	chr2:21258600-21261800	Genic enhancers	Liver	Liver
11	chr2:21259400-21259800	Enhancers	Lung	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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