Variant report

Variant	rs12480258
Chromosome Location	chr20:1195532-1195533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1193844..1196464-chr20:1438484..1440778,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12480861	0.82[ASN][1000 genomes]
rs126622	0.88[ASN][1000 genomes]
rs16992733	1.00[CHB][hapmap]
rs16992790	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs17778888	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.86[EUR][1000 genomes]
rs1923876	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs203529	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs203534	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs203551	0.88[ASN][1000 genomes]
rs450739	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs55658568	0.86[EUR][1000 genomes]
rs55924053	0.86[EUR][1000 genomes]
rs56362317	0.83[EUR][1000 genomes]
rs56389713	0.86[EUR][1000 genomes]
rs56746686	0.86[EUR][1000 genomes]
rs58974011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59098165	0.86[EUR][1000 genomes]
rs6040904	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6074333	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6074364	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6074376	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs6078248	0.82[ASN][1000 genomes]
rs6078316	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs7271653	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73073613	0.86[EUR][1000 genomes]
rs73073619	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9653633	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs9789799	0.86[EUR][1000 genomes]
rs9789836	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1194000-1195600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr20:1194000-1195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr20:1194000-1195600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr20:1194000-1195600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr20:1194000-1195600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr20:1194000-1195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr20:1194000-1195800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:1194000-1196000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr20:1194000-1197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr20:1194200-1195600	Enhancers	K562	blood
11	chr20:1194400-1196000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr20:1194400-1196400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr20:1195200-1198800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr20:1195400-1196200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr20:1195400-1197800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links