Variant report

Variant	rs7117597
Chromosome Location	chr11:93655091-93655092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93654633..93655604-chr11:93769016..93769927,3	K562	blood:
2	chr11:93654234..93656516-chr11:93799480..93801603,2	K562	blood:
3	chr11:93654636..93655438-chr11:93916836..93917602,2	MCF-7	breast:
4	chr11:93654497..93655291-chr11:93768975..93769708,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10466334	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10466335	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10501809	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10741479	0.89[EUR][1000 genomes]
rs10765647	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10831147	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10831148	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11020593	0.86[EUR][1000 genomes]
rs11020601	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11020603	0.80[CEU][hapmap];0.95[GIH][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11020604	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12785240	0.91[EUR][1000 genomes]
rs12789389	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs12792941	0.87[ASN][1000 genomes]
rs1518578	0.95[ASN][1000 genomes]
rs1518579	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1607402	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1607403	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1827932	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2008041	0.87[ASN][1000 genomes]
rs2456563	0.90[ASN][1000 genomes]
rs4254038	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4402256	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4753113	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6483280	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6483281	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6483283	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7102555	0.95[ASN][1000 genomes]
rs7105031	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7105060	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7113080	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7940973	0.87[ASN][1000 genomes]
rs7942236	0.87[ASN][1000 genomes]
rs7944194	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv508650	chr11:93609010-93713576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv1796911	chr11:93642877-93688134	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7117597	GPR83	cis	cerebellum	SCAN
rs7117597	MTNR1B	cis	cerebellum	SCAN
rs7117597	C11orf54	cis	parietal	SCAN
rs7117597	C11orf75	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93642000-93655200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93655000-93655400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93655000-93655400	Enhancers	GM12878-XiMat	blood
4	chr11:93655000-93655600	Enhancers	NHEK	skin
5	chr11:93655000-93656400	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links