Variant report

Variant	rs1582487
Chromosome Location	chr5:112843039-112843040
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112842312..112845098-chr5:112847464..112851049,4	K562	blood:
2	chr5:112842488..112845098-chr5:112846749..112850121,5	K562	blood:

Variant related genes	Relation type
ENSG00000047188	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10035297	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10042141	1.00[EUR][1000 genomes]
rs10070825	0.88[ASN][1000 genomes]
rs10155616	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[EUR][1000 genomes]
rs10440762	0.81[CHB][hapmap]
rs10477494	0.88[ASN][1000 genomes]
rs11950116	1.00[EUR][1000 genomes]
rs11950577	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12332461	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs12652864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12653115	0.81[EUR][1000 genomes]
rs12656898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12659463	0.81[EUR][1000 genomes]
rs12659593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13356509	0.88[ASN][1000 genomes]
rs17135586	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17135601	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17135607	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17135615	1.00[AMR][1000 genomes]
rs17135647	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1816063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222145	1.00[AMR][1000 genomes]
rs2303718	0.90[CHB][hapmap]
rs2900070	1.00[AMR][1000 genomes]
rs36009332	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36015377	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3763136	0.81[EUR][1000 genomes]
rs3843500	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41459745	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4345310	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56090613	0.90[EUR][1000 genomes]
rs58014465	0.81[EUR][1000 genomes]
rs6866028	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6879177	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs7719254	0.86[EUR][1000 genomes]
rs7731451	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs9654506	0.88[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112841400-112847800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112841400-112848000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:112841600-112844200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:112841600-112847000	Weak transcription	NHEK	skin
5	chr5:112842200-112844200	Weak transcription	HMEC	breast
6	chr5:112842800-112843600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:112843000-112843200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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