Variant report

Variant	rs7130456
Chromosome Location	chr11:94015645-94015646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:94005143..94008491-chr11:94011784..94016089,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1014499	0.82[EUR][1000 genomes]
rs10765657	0.84[CEU][hapmap]
rs10765658	0.82[EUR][1000 genomes]
rs10765660	0.82[EUR][1000 genomes]
rs10831169	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10831173	0.81[EUR][1000 genomes]
rs10831176	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10831184	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11020679	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11020703	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11020719	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12366039	0.82[EUR][1000 genomes]
rs12792677	0.82[EUR][1000 genomes]
rs12803129	0.95[EUR][1000 genomes]
rs12808853	0.82[EUR][1000 genomes]
rs1361929	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1541301	0.88[CEU][hapmap]
rs16920039	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs1789652	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs1833063	0.86[EUR][1000 genomes]
rs1857680	0.82[EUR][1000 genomes]
rs1944436	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2000956	0.82[EUR][1000 genomes]
rs2051464	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2156627	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3020004	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs3020016	0.96[CEU][hapmap]
rs4753131	0.82[EUR][1000 genomes]
rs4753132	0.82[EUR][1000 genomes]
rs4753569	0.86[EUR][1000 genomes]
rs480710	0.84[EUR][1000 genomes]
rs581771	0.84[EUR][1000 genomes]
rs613234	0.84[EUR][1000 genomes]
rs61907582	0.84[EUR][1000 genomes]
rs6483324	0.95[EUR][1000 genomes]
rs655358	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs672392	0.84[EUR][1000 genomes]
rs689315	0.84[EUR][1000 genomes]
rs7106476	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7115129	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7118270	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7936241	0.82[EUR][1000 genomes]
rs7944234	0.96[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	nsv523083	chr11:93962121-94150790	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832233	chr11:93981434-94158471	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7130456	RP11-680H20.2	cis	Artery Tibial	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94011600-94017000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:94011800-94017200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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