Variant report

Variant	rs458739
Chromosome Location	chr20:52630383-52630384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs158544	1.00[YRI][hapmap]
rs158547	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs158551	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16998745	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182345	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208372	1.00[YRI][hapmap]
rs208373	0.82[YRI][hapmap]
rs208375	1.00[YRI][hapmap]
rs208386	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276490	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.85[MKK][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs290424	1.00[YRI][hapmap]
rs290460	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs290461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs290469	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs290470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs457900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 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	chr20:52566400-52644800	Weak transcription	Gastric	stomach
2	chr20:52601800-52630800	Weak transcription	Stomach Mucosa	stomach
3	chr20:52618800-52644400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr20:52619000-52630600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:52624000-52633400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:52626400-52630600	Weak transcription	Brain Hippocampus Middle	brain
7	chr20:52627000-52630400	Weak transcription	Brain Substantia Nigra	brain
8	chr20:52627600-52633200	Weak transcription	Brain Angular Gyrus	brain
9	chr20:52628400-52631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:52630000-52630800	Enhancers	Brain Cingulate Gyrus	brain
11	chr20:52630000-52631200	Enhancers	NHDF-Ad	bronchial
12	chr20:52630200-52630400	Enhancers	Fetal Kidney	kidney
13	chr20:52630200-52631400	Enhancers	Brain Anterior Caudate	brain
14	chr20:52630200-52632200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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

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