Variant report

Variant	rs550619
Chromosome Location	chr2:21260601-21260602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12713956	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12714102	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12720820	0.88[EUR][1000 genomes]
rs2854725	0.83[TSI][hapmap]
rs3791981	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs570877	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579826	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs550619	APOB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:16 , 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	chr2:21255400-21262800	Weak transcription	Right Atrium	heart
5	chr2:21256200-21261400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:21256600-21266400	Transcr. at gene 5' and 3'	HepG2	liver
7	chr2:21258600-21261800	Genic enhancers	Liver	Liver
8	chr2:21259800-21262800	Weak transcription	Aorta	Aorta
9	chr2:21260200-21260800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:21260400-21266000	Weak transcription	Lung	lung
11	chr2:21260600-21260800	Enhancers	Pancreas	Pancrea
12	chr2:21260600-21261600	Enhancers	Left Ventricle	heart
13	chr2:21260600-21261600	Enhancers	Right Ventricle	heart
14	chr2:21260600-21261600	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:21260600-21262200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:21260600-21262400	Weak transcription	Duodenum Mucosa	Duodenum

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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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