Variant report

Variant	rs7269464
Chromosome Location	chr20:23121512-23121513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11087414	0.87[CHB][hapmap];0.84[YRI][hapmap]
rs11697283	0.91[CHB][hapmap]
rs12710326	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1884658	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4813480	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4815176	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048561	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6083011	0.91[CHB][hapmap]
rs6083014	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs6083015	0.87[CHB][hapmap];0.84[ASN][1000 genomes]
rs6083016	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap];0.92[ASN][1000 genomes]
rs6083017	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6113954	0.91[CHB][hapmap]
rs6113957	0.95[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.91[ASN][1000 genomes]
rs6113960	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6515302	0.91[CHB][hapmap]
rs6515304	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs755697	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8122415	0.86[CHB][hapmap]
rs844903	0.80[CEU][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs844904	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23110400-23121600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr20:23114200-23121800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr20:23114600-23121800	Weak transcription	Right Ventricle	heart
4	chr20:23114600-23122800	Weak transcription	Right Atrium	heart
5	chr20:23115800-23122600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr20:23117000-23121600	Weak transcription	Adipose Nuclei	Adipose
7	chr20:23117000-23121800	Weak transcription	NHDF-Ad	bronchial
8	chr20:23117800-23122200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr20:23117800-23122800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr20:23118000-23122000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr20:23118200-23121600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr20:23118200-23123000	Weak transcription	Hela-S3	cervix
13	chr20:23118400-23121600	Weak transcription	HSMMtube	muscle
14	chr20:23118400-23131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:23118800-23123000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr20:23119200-23121600	Weak transcription	Fetal Muscle Leg	muscle
17	chr20:23119600-23121800	Weak transcription	Spleen	Spleen
18	chr20:23119800-23128600	Weak transcription	Gastric	stomach
19	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
20	chr20:23120400-23122200	Weak transcription	Fetal Thymus	thymus
21	chr20:23120400-23122600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr20:23120400-23123200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr20:23120400-23123600	Enhancers	K562	blood
24	chr20:23120600-23121600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr20:23120600-23121800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr20:23120600-23121800	Weak transcription	Esophagus	oesophagus
27	chr20:23120600-23121800	Weak transcription	Placenta	Placenta
28	chr20:23120600-23121800	Weak transcription	Left Ventricle	heart
29	chr20:23120600-23121800	Weak transcription	Lung	lung
30	chr20:23120600-23121800	Weak transcription	Psoas Muscle	Psoas
31	chr20:23120600-23121800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr20:23120600-23122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:23120600-23122000	Weak transcription	GM12878-XiMat	blood
34	chr20:23120600-23122000	Weak transcription	NHEK	skin
35	chr20:23120600-23122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr20:23120600-23122600	Weak transcription	HMEC	breast
37	chr20:23120600-23123000	Enhancers	Dnd41	blood
38	chr20:23120600-23123400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr20:23120600-23123400	Weak transcription	Fetal Lung	lung
40	chr20:23121000-23128000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr20:23121200-23128800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr20:23121200-23128800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr20:23121200-23130800	Enhancers	HSMM	muscle
45	chr20:23121400-23121600	Enhancers	Osteobl	bone

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