Variant report

Variant	rs4973277
Chromosome Location	chr2:231020253-231020254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231020225..231023004-chr2:231144034..231146526,2	K562	blood:
2	chr2:231016438..231018368-chr2:231018976..231021680,2	K562	blood:
3	chr2:231018752..231022838-chr2:231023461..231026351,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10199897	0.93[ASN][1000 genomes]
rs10209232	0.93[ASN][1000 genomes]
rs10755047	0.98[ASN][1000 genomes]
rs10804362	0.85[EUR][1000 genomes]
rs10933326	0.93[ASN][1000 genomes]
rs11676757	0.98[ASN][1000 genomes]
rs11897559	0.86[EUR][1000 genomes]
rs11899718	0.86[EUR][1000 genomes]
rs11899803	0.86[EUR][1000 genomes]
rs11904634	0.86[EUR][1000 genomes]
rs12694823	0.86[EUR][1000 genomes]
rs12694824	0.86[EUR][1000 genomes]
rs12694825	0.85[EUR][1000 genomes]
rs12694826	0.85[EUR][1000 genomes]
rs12694827	0.86[EUR][1000 genomes]
rs12694828	0.86[EUR][1000 genomes]
rs12694843	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004807	0.93[ASN][1000 genomes]
rs13432517	0.94[EUR][1000 genomes]
rs1365773	0.93[ASN][1000 genomes]
rs1365774	0.93[ASN][1000 genomes]
rs1365775	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1427291	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1549568	0.93[ASN][1000 genomes]
rs1549569	0.93[ASN][1000 genomes]
rs1549570	0.93[ASN][1000 genomes]
rs1549571	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863673	0.91[ASN][1000 genomes]
rs2396712	0.93[ASN][1000 genomes]
rs2894694	0.95[ASN][1000 genomes]
rs4622704	0.93[CEU][hapmap]
rs4973276	0.85[EUR][1000 genomes]
rs6436907	0.93[EUR][1000 genomes]
rs6436912	0.93[ASN][1000 genomes]
rs6436913	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6720990	0.86[EUR][1000 genomes]
rs6721137	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6734429	0.86[EUR][1000 genomes]
rs6735555	0.82[EUR][1000 genomes]
rs6738945	0.86[EUR][1000 genomes]
rs6740011	0.86[EUR][1000 genomes]
rs7424288	0.85[EUR][1000 genomes]
rs7586233	0.86[EUR][1000 genomes]
rs9807953	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv875943	chr2:230960946-231027162	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv520444	chr2:231014505-231021064	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv518470	chr2:231018169-231027162	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231018200-231022600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:231018200-231026000	Weak transcription	Primary T cells from cord blood	blood
3	chr2:231019000-231022400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr2:231019200-231022800	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:231019400-231020600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:231019400-231024600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:231019600-231020400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:231019600-231020600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr2:231019800-231020600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr2:231020000-231020400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:231020200-231020400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:231020200-231020400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:231020200-231021200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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