Variant report

Variant	rs7119887
Chromosome Location	chr11:9016935-9016936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9016089..9018406-chr11:9024476..9026148,2	K562	blood:
2	chr11:9015661..9017205-chr11:9018706..9021551,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253973	Chromatin interaction
ENSG00000175352	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10840149	0.80[AMR][1000 genomes]
rs10840152	0.90[AMR][1000 genomes]
rs1989143	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2195812	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2262323	0.80[AMR][1000 genomes]
rs2568021	0.80[AMR][1000 genomes]
rs2568023	0.85[YRI][hapmap];0.90[AMR][1000 genomes]
rs2568024	0.90[AMR][1000 genomes]
rs2568027	0.80[AMR][1000 genomes]
rs2568030	0.87[ASW][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes]
rs2568036	0.80[AMR][1000 genomes]
rs2568046	0.88[YRI][hapmap]
rs2568051	1.00[EUR][1000 genomes]
rs2568060	0.81[YRI][hapmap]
rs2568072	0.80[AMR][1000 genomes]
rs2568083	0.92[YRI][hapmap]
rs2653561	0.80[AMR][1000 genomes]
rs2653563	0.81[YRI][hapmap];0.90[AMR][1000 genomes]
rs2653571	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2653583	0.80[AMR][1000 genomes]
rs2653584	0.85[LWK][hapmap];0.94[MKK][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes]
rs2653585	0.80[AMR][1000 genomes]
rs2653592	0.84[AFR][1000 genomes]
rs2653595	0.82[AFR][1000 genomes]
rs2653600	0.80[AMR][1000 genomes]
rs2653608	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2742479	0.80[AMR][1000 genomes]
rs2742507	0.80[AMR][1000 genomes]
rs2742508	0.86[ASW][hapmap];0.83[LWK][hapmap];0.87[MKK][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes]
rs2742526	0.80[AMR][1000 genomes]
rs2742527	0.80[AMR][1000 genomes]
rs2742548	1.00[EUR][1000 genomes]
rs57052969	1.00[EUR][1000 genomes]
rs58309260	1.00[EUR][1000 genomes]
rs58361373	1.00[EUR][1000 genomes]
rs58795427	1.00[EUR][1000 genomes]
rs59398820	1.00[EUR][1000 genomes]
rs59400072	1.00[EUR][1000 genomes]
rs59984721	1.00[EUR][1000 genomes]
rs60602151	1.00[EUR][1000 genomes]
rs60731772	1.00[EUR][1000 genomes]
rs60960132	1.00[EUR][1000 genomes]
rs61217844	1.00[EUR][1000 genomes]
rs61379640	1.00[EUR][1000 genomes]
rs6416158	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6416159	0.83[LWK][hapmap];0.80[MKK][hapmap];0.92[YRI][hapmap]
rs6486149	1.00[EUR][1000 genomes]
rs7104415	0.87[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73402319	1.00[EUR][1000 genomes]
rs73402323	1.00[EUR][1000 genomes]
rs73402339	1.00[EUR][1000 genomes]
rs73402344	1.00[EUR][1000 genomes]
rs73402346	1.00[EUR][1000 genomes]
rs73402362	1.00[EUR][1000 genomes]
rs73412019	1.00[EUR][1000 genomes]
rs73412032	1.00[EUR][1000 genomes]
rs73416044	1.00[EUR][1000 genomes]
rs73416046	1.00[EUR][1000 genomes]
rs73416057	1.00[EUR][1000 genomes]
rs7395934	0.87[ASW][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7396042	0.80[AMR][1000 genomes]
rs7396427	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932954	1.00[EUR][1000 genomes]
rs7935518	1.00[EUR][1000 genomes]
rs7948651	1.00[EUR][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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7119887	C11orf17	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8989600-9019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:9011000-9023200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:9011800-9023000	Weak transcription	NHDF-Ad	bronchial
4	chr11:9015600-9017800	Enhancers	K562	blood
5	chr11:9016000-9019400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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