Variant report

Variant	rs11955530
Chromosome Location	chr5:8904867-8904868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10044975	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10066058	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10067632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10067695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11743231	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11747031	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11749514	0.81[ASN][1000 genomes]
rs11960860	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12519046	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12522763	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2962657	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962658	0.92[ASN][1000 genomes]
rs2962661	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2962662	0.90[ASN][1000 genomes]
rs2962663	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2962664	0.90[ASN][1000 genomes]
rs2962665	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2962666	0.90[ASN][1000 genomes]
rs2962667	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2962669	0.90[ASN][1000 genomes]
rs2962670	0.93[ASN][1000 genomes]
rs2962674	0.93[ASN][1000 genomes]
rs2962676	0.91[ASN][1000 genomes]
rs2962677	0.95[ASN][1000 genomes]
rs2962679	0.97[ASN][1000 genomes]
rs2962681	0.96[ASN][1000 genomes]
rs2963330	0.94[ASN][1000 genomes]
rs2963331	0.95[ASN][1000 genomes]
rs2963339	0.97[ASN][1000 genomes]
rs2963340	0.97[ASN][1000 genomes]
rs2963342	0.95[ASN][1000 genomes]
rs2963343	0.94[ASN][1000 genomes]
rs2963348	0.92[ASN][1000 genomes]
rs2963352	0.93[ASN][1000 genomes]
rs2963353	0.93[ASN][1000 genomes]
rs2963354	0.93[ASN][1000 genomes]
rs2963357	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35444626	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4298224	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4701829	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4701830	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4701831	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4702597	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4702598	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702599	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4702600	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58276868	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62356637	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62356640	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6861563	0.81[EUR][1000 genomes]
rs6872260	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6875135	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6875415	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6889793	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9313256	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9313258	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	esv3492014	chr5:8749469-9004066	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3492015	chr5:8749469-9004066	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
8	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
9	nsv830199	chr5:8855056-9024096	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11955530	FLJ33360	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8904400-8906000	Enhancers	Brain Germinal Matrix	brain
2	chr5:8904600-8905000	Enhancers	Fetal Muscle Leg	muscle
3	chr5:8904600-8907000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:8904600-8908200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:8904600-8908600	Enhancers	NHLF	lung
6	chr5:8904600-8908800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:8904600-8908800	Enhancers	HMEC	breast
8	chr5:8904600-8908800	Enhancers	NHDF-Ad	bronchial
9	chr5:8904800-8905000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:8904800-8905400	Enhancers	Fetal Heart	heart
11	chr5:8904800-8906000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:8904800-8906200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:8904800-8906800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:8904800-8907000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:8904800-8907200	Enhancers	NHEK	skin
16	chr5:8904800-8907600	Enhancers	Osteobl	bone

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