Variant report

Variant	rs3004148
Chromosome Location	chr20:23593829-23593830
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10485646	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424563	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2983639	0.89[CHB][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2983641	0.83[CHB][hapmap];0.81[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3004142	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35701829	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6036464	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048927	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6106689	0.88[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6106691	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62207039	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62208864	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62208869	0.83[EUR][1000 genomes]
rs7265919	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73312653	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8120131	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984503	0.81[CHB][hapmap];1.00[JPT][hapmap]

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	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv20263	chr20:23593820-23594562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23583400-23594000	Weak transcription	Right Atrium	heart
2	chr20:23587000-23595600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr20:23587800-23594000	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:23588200-23594800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr20:23590000-23594000	Weak transcription	Brain Hippocampus Middle	brain
6	chr20:23590400-23595000	Weak transcription	Brain Anterior Caudate	brain
7	chr20:23592200-23595400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:23592400-23594800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:23592600-23595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr20:23593000-23595200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr20:23593200-23594000	Weak transcription	Brain Germinal Matrix	brain
12	chr20:23593400-23595200	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr20:23593600-23594000	Enhancers	Stomach Smooth Muscle	stomach
14	chr20:23593600-23595200	Enhancers	Ovary	ovary

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

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