Variant report

Variant	rs7115129
Chromosome Location	chr11:94029888-94029889
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1014499	0.81[EUR][1000 genomes]
rs10765657	0.84[CEU][hapmap];0.85[CHB][hapmap]
rs10765658	0.80[EUR][1000 genomes]
rs10765660	0.81[EUR][1000 genomes]
rs10831176	0.82[EUR][1000 genomes]
rs10831184	0.83[EUR][1000 genomes]
rs11020679	0.81[EUR][1000 genomes]
rs11020703	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11020719	0.91[EUR][1000 genomes]
rs12366039	0.81[EUR][1000 genomes]
rs12792677	0.81[EUR][1000 genomes]
rs12803129	0.93[EUR][1000 genomes]
rs12808853	0.81[EUR][1000 genomes]
rs1361929	0.95[EUR][1000 genomes]
rs1541301	0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[TSI][hapmap]
rs16920039	0.88[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes]
rs1789652	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs1833063	0.84[EUR][1000 genomes]
rs1857680	0.80[EUR][1000 genomes]
rs1944436	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2000956	0.80[EUR][1000 genomes]
rs2051464	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2156627	0.82[EUR][1000 genomes]
rs3020004	0.92[CEU][hapmap];0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs3020016	0.96[CEU][hapmap];0.84[CHB][hapmap]
rs4753131	0.81[EUR][1000 genomes]
rs4753132	0.81[EUR][1000 genomes]
rs4753569	0.84[EUR][1000 genomes]
rs480710	0.83[EUR][1000 genomes]
rs581771	0.83[EUR][1000 genomes]
rs613234	0.83[EUR][1000 genomes]
rs61907582	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6483324	0.97[EUR][1000 genomes]
rs655358	0.91[EUR][1000 genomes]
rs672392	0.85[EUR][1000 genomes]
rs689315	0.83[EUR][1000 genomes]
rs7106476	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7118270	0.83[EUR][1000 genomes]
rs7130456	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7936241	0.81[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7115129	SIK2	trans	parietal	SCAN
rs7115129	RP11-680H20.2	cis	Artery Tibial	GTEx
rs7115129	PANX1	cis	lymphoblastoid	seeQTL
rs7115129	GPR83	cis	parietal	SCAN
rs7115129	PANX1	cis	parietal	SCAN
rs7115129	GPR83	cis	cerebellum	SCAN
rs7115129	MRE11A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94026600-94030600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:94029800-94038000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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