Variant report

Variant	rs2567613
Chromosome Location	chr20:23004858-23004859
allele	C/T
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]
rs11696134	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2207106	0.82[CEU][hapmap]
rs220979	1.00[YRI][hapmap]
rs220990	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235951	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2235952	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2567608	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2567609	0.92[CEU][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2567614	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3746726	0.81[CEU][hapmap]
rs3746728	0.81[CEU][hapmap]
rs6082979	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082981	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6113897	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6113909	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7361512	0.89[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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3390601	chr20:23003076-23007103	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22996000-23006200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr20:23001000-23005800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr20:23001000-23008800	Weak transcription	Lung	lung
4	chr20:23001000-23015800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:23001600-23005600	Enhancers	Stomach Mucosa	stomach
6	chr20:23002600-23005600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr20:23002800-23006200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr20:23003000-23005000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr20:23003000-23005200	Weak transcription	Thymus	Thymus
10	chr20:23003000-23005800	Weak transcription	Dnd41	blood
11	chr20:23003400-23006000	Enhancers	Fetal Heart	heart
12	chr20:23004200-23005000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr20:23004600-23005400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:23004600-23005400	Enhancers	Gastric	stomach
15	chr20:23004600-23007600	Weak transcription	Spleen	Spleen

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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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