Variant report

Variant	rs17114572
Chromosome Location	chr1:57376050-57376051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57369433..57371881-chr1:57374714..57376933,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12408409	0.97[ASN][1000 genomes]
rs12408410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408424	0.94[ASN][1000 genomes]
rs1342438	0.97[ASN][1000 genomes]
rs1342440	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1418472	0.97[ASN][1000 genomes]
rs1612309	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs1616673	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1620073	0.94[ASN][1000 genomes]
rs1620075	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs1620115	0.97[ASN][1000 genomes]
rs1622553	0.97[ASN][1000 genomes]
rs1623504	0.97[ASN][1000 genomes]
rs17114527	1.00[CEU][hapmap]
rs17114537	1.00[CEU][hapmap]
rs17114560	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17114585	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs17114586	0.97[ASN][1000 genomes]
rs17114605	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs17114608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1741985	0.97[ASN][1000 genomes]
rs1741986	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.97[ASN][1000 genomes]
rs1741988	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs1741989	0.97[ASN][1000 genomes]
rs1741990	0.97[ASN][1000 genomes]
rs1754506	0.97[ASN][1000 genomes]
rs1754533	0.97[ASN][1000 genomes]
rs1754534	0.97[ASN][1000 genomes]
rs1754536	0.97[ASN][1000 genomes]
rs1754537	0.97[ASN][1000 genomes]
rs1754538	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs1754539	0.97[ASN][1000 genomes]
rs1774889	0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs1774890	0.97[ASN][1000 genomes]
rs1774892	0.97[ASN][1000 genomes]
rs1774893	0.97[ASN][1000 genomes]
rs1774894	0.97[ASN][1000 genomes]
rs1774895	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs1774896	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs1774897	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs1774898	0.97[ASN][1000 genomes]
rs1774899	0.97[ASN][1000 genomes]
rs1774900	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1774901	0.97[ASN][1000 genomes]
rs1774902	0.97[ASN][1000 genomes]
rs2772090	0.97[ASN][1000 genomes]
rs57008461	0.97[ASN][1000 genomes]
rs57045237	0.97[ASN][1000 genomes]
rs57310579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57637638	0.97[ASN][1000 genomes]
rs58523865	0.97[ASN][1000 genomes]
rs61514985	0.97[ASN][1000 genomes]
rs725746	0.97[ASN][1000 genomes]
rs72915427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915461	0.97[ASN][1000 genomes]
rs857028	1.00[CEU][hapmap]
rs857029	1.00[CEU][hapmap]
rs857033	1.00[CEU][hapmap]
rs9437011	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.97[ASN][1000 genomes]
rs947656	0.90[ASN][1000 genomes]
rs972326	0.97[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57364600-57376200	Weak transcription	Stomach Mucosa	stomach
2	chr1:57367200-57378400	Enhancers	Liver	Liver
3	chr1:57371000-57376200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:57372800-57377800	Enhancers	Fetal Intestine Large	intestine
5	chr1:57373200-57377800	Enhancers	Fetal Intestine Small	intestine
6	chr1:57373600-57377200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:57373600-57377800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:57373800-57377800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:57373800-57377800	Enhancers	NHDF-Ad	bronchial
10	chr1:57374000-57377000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:57374400-57376600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:57374400-57377200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:57374600-57376600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:57374600-57377600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:57374800-57376400	Weak transcription	NHLF	lung
16	chr1:57375000-57376200	Weak transcription	Psoas Muscle	Psoas
17	chr1:57375200-57376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:57375400-57377800	Enhancers	Adipose Nuclei	Adipose
19	chr1:57375600-57376400	Enhancers	Left Ventricle	heart
20	chr1:57375600-57377600	Enhancers	Pancreas	Pancrea
21	chr1:57376000-57376200	Flanking Active TSS	HepG2	liver
22	chr1:57376000-57378200	Enhancers	Gastric	stomach

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