Variant report

Variant	rs12131588
Chromosome Location	chr1:197666111-197666112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197665354..197667881-chr1:197692912..197694722,2	K562	blood:
2	chr1:197650384..197656370-chr1:197660434..197666309,6	K562	blood:
3	chr1:197653272..197654957-chr1:197663523..197666309,2	K562	blood:

Variant related genes	Relation type
ENSG00000207139	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10737693	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11583319	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11588864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11799915	0.92[ASN][1000 genomes]
rs12092948	0.99[ASN][1000 genomes]
rs12117045	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12118913	0.81[AMR][1000 genomes]
rs12141028	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12354257	0.99[ASN][1000 genomes]
rs12724239	0.80[AMR][1000 genomes]
rs12748009	0.80[AMR][1000 genomes]
rs1421399	0.88[ASN][1000 genomes]
rs1573100	0.97[ASN][1000 genomes]
rs16841842	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16841904	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16841912	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17564924	0.92[ASN][1000 genomes]
rs17641524	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1775448	0.94[ASN][1000 genomes]
rs1775452	0.94[ASN][1000 genomes]
rs1998598	0.90[ASN][1000 genomes]
rs2224873	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2477059	0.97[ASN][1000 genomes]
rs2477073	0.94[ASN][1000 genomes]
rs2477077	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2488389	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2488391	0.87[ASN][1000 genomes]
rs2488393	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2488397	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2488398	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2488401	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2884629	0.87[ASN][1000 genomes]
rs35939830	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4316387	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6682968	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6702421	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[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	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv873077	chr1:197615391-197698103	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv548873	chr1:197664905-197694037	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197657000-197677000	Weak transcription	Ovary	ovary
2	chr1:197658200-197668200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:197659400-197674800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:197659600-197667000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:197659800-197674400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:197665000-197666400	Enhancers	NHEK	skin
7	chr1:197665200-197666200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:197665200-197666400	Enhancers	HMEC	breast
9	chr1:197665400-197666200	Enhancers	HUVEC	blood vessel
10	chr1:197665400-197666200	Enhancers	NH-A	brain
11	chr1:197665600-197666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:197665600-197666400	Enhancers	Hela-S3	cervix
13	chr1:197665600-197667000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:197665800-197666200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:197665800-197675400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:197665800-197693600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:197666000-197666200	Enhancers	Primary T helper cells fromperipheralblood	blood

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