Variant report

Variant	rs2983644
Chromosome Location	chr20:23592966-23592967
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2093145	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2104006	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2424566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424574	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2424576	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs2424577	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs2424581	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2983636	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2983640	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3004144	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs726217	0.92[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs984503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:11 , 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	chr20:23588200-23593400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr20:23588200-23594800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr20:23590000-23594000	Weak transcription	Brain Hippocampus Middle	brain
7	chr20:23590400-23595000	Weak transcription	Brain Anterior Caudate	brain
8	chr20:23591200-23593600	Weak transcription	Ovary	ovary
9	chr20:23592200-23595400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr20:23592400-23594800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr20:23592600-23595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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