Variant report

Variant	rs13247831
Chromosome Location	chr7:27768492-27768493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27754406..27757331-chr7:27767738..27770016,2	K562	blood:
2	chr7:27751979..27753711-chr7:27767653..27770152,2	MCF-7	breast:
3	chr7:27763575..27766795-chr7:27768308..27771533,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1000317	0.95[CEU][hapmap]
rs10951174	0.90[CEU][hapmap]
rs10951186	0.86[CEU][hapmap]
rs11520772	0.89[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12155171	0.83[EUR][1000 genomes]
rs12531244	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs12531907	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs12532737	0.85[EUR][1000 genomes]
rs12537135	0.81[EUR][1000 genomes]
rs12700847	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs12700848	0.81[CEU][hapmap]
rs13224500	0.83[EUR][1000 genomes]
rs13227521	0.94[CEU][hapmap]
rs13227574	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs13231645	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs13232561	0.95[CEU][hapmap]
rs13236065	0.84[EUR][1000 genomes]
rs13236908	0.95[CEU][hapmap]
rs13237769	0.84[EUR][1000 genomes]
rs1544413	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544414	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17155954	0.85[CEU][hapmap]
rs17613082	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17613350	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34594641	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35105727	0.84[EUR][1000 genomes]
rs35232956	0.84[EUR][1000 genomes]
rs35536764	0.83[EUR][1000 genomes]
rs35733141	0.81[EUR][1000 genomes]
rs35801744	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35971552	0.81[EUR][1000 genomes]
rs36057260	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36069602	0.81[EUR][1000 genomes]
rs36114463	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4391326	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4455744	0.83[EUR][1000 genomes]
rs4719901	0.94[CEU][hapmap]
rs4722725	0.84[CEU][hapmap]
rs57088391	0.82[EUR][1000 genomes]
rs6944455	0.83[EUR][1000 genomes]
rs6946448	0.81[CEU][hapmap]
rs6963753	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs6968631	0.84[EUR][1000 genomes]
rs6969043	0.84[EUR][1000 genomes]
rs6969207	0.84[EUR][1000 genomes]
rs71539544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71555704	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13247831	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle

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