Variant report

Variant	rs200744
Chromosome Location	chr20:15594367-15594368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs200737	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.84[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200741	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs200751	1.00[YRI][hapmap]
rs200752	1.00[YRI][hapmap]
rs200780	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes]
rs200781	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs392064	0.84[CEU][hapmap]
rs6135462	0.91[AFR][1000 genomes]

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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2751909	chr20:15489871-15656007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15589000-15596000	Enhancers	Fetal Heart	heart
2	chr20:15591000-15595200	Enhancers	Liver	Liver
3	chr20:15591600-15594400	Weak transcription	Aorta	Aorta
4	chr20:15592200-15594800	Enhancers	Fetal Lung	lung
5	chr20:15592800-15594400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr20:15592800-15594400	Enhancers	Brain Germinal Matrix	brain
7	chr20:15593200-15595200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:15593600-15594600	Enhancers	Fetal Intestine Small	intestine
9	chr20:15593600-15594800	Enhancers	Right Atrium	heart
10	chr20:15593600-15594800	Enhancers	Stomach Mucosa	stomach
11	chr20:15593600-15596200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:15594000-15594600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr20:15594000-15594800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:15594200-15594600	Enhancers	Fetal Intestine Large	intestine
15	chr20:15594200-15594600	Enhancers	Left Ventricle	heart
16	chr20:15594200-15594800	Bivalent Enhancer	HSMMtube	muscle

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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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