Variant report

Variant	rs984503
Chromosome Location	chr20:23594325-23594326
allele	A/G
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	0.92[JPT][hapmap]
rs2093145	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2104006	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];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424574	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2424576	0.88[EUR][1000 genomes]
rs2424577	0.88[EUR][1000 genomes]
rs2424581	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2983636	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2983639	0.83[JPT][hapmap]
rs2983640	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2983644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3004144	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3004148	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs6106689	0.83[JPT][hapmap]
rs726217	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][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	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23587000-23595600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:23588200-23594800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr20:23590400-23595000	Weak transcription	Brain Anterior Caudate	brain
4	chr20:23592200-23595400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr20:23592400-23594800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:23592600-23595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr20:23593000-23595200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:23593400-23595200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr20:23593600-23595200	Enhancers	Ovary	ovary
10	chr20:23594000-23594400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr20:23594000-23594800	Enhancers	Adipose Nuclei	Adipose
12	chr20:23594000-23595000	Enhancers	Brain Germinal Matrix	brain
13	chr20:23594000-23595200	Enhancers	Right Atrium	heart
14	chr20:23594000-23595400	Enhancers	Rectal Smooth Muscle	rectum
15	chr20:23594000-23595800	Enhancers	Colon Smooth Muscle	Colon
16	chr20:23594200-23594600	Weak transcription	Brain Hippocampus Middle	brain
17	chr20:23594200-23595200	Enhancers	Fetal Muscle Trunk	muscle
18	chr20:23594200-23595200	Enhancers	Skeletal Muscle Male	skeletal 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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