Variant report

Variant	rs17384294
Chromosome Location	chr5:95658155-95658156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10043904	0.96[AFR][1000 genomes]
rs10070093	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10476668	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs113317	0.80[JPT][hapmap]
rs113318	0.80[JPT][hapmap]
rs12521786	0.81[EUR][1000 genomes]
rs155968	0.80[JPT][hapmap]
rs155969	0.80[JPT][hapmap]
rs155996	0.80[JPT][hapmap]
rs156016	0.80[JPT][hapmap]
rs156020	0.80[JPT][hapmap]
rs271913	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs271920	0.80[JPT][hapmap]
rs271922	0.80[JPT][hapmap];0.83[MEX][hapmap]
rs271924	0.80[JPT][hapmap];0.83[MEX][hapmap]
rs271925	0.80[JPT][hapmap]
rs271926	0.80[JPT][hapmap];0.83[MEX][hapmap]
rs28788264	0.89[AFR][1000 genomes]
rs4077816	0.87[ASW][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap]
rs459608	0.80[JPT][hapmap]
rs4635954	0.89[AFR][1000 genomes]
rs6233	0.80[JPT][hapmap];0.83[MEX][hapmap]
rs62364560	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62364561	0.96[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6893547	0.96[CEU][hapmap];0.81[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7448311	0.81[EUR][1000 genomes]
rs7708068	0.81[AFR][1000 genomes]
rs7733672	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17384294	CMAS	trans	cerebellum	SCAN
rs17384294	CADPS	trans	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95652800-95658600	Weak transcription	Liver	Liver
2	chr5:95654000-95659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:95655800-95658200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:95656400-95658200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:95656400-95658200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:95656400-95658200	Enhancers	NHDF-Ad	bronchial
7	chr5:95656600-95658200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:95657600-95659000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:95657600-95659600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:95657600-95660000	Weak transcription	Hela-S3	cervix
11	chr5:95657600-95660000	Weak transcription	NHEK	skin
12	chr5:95657800-95658400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr5:95657800-95658800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:95657800-95659000	Enhancers	HepG2	liver
15	chr5:95657800-95660800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:95658000-95658200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:95658000-95658400	ZNF genes & repeats	Aorta	Aorta
18	chr5:95658000-95658400	Enhancers	Esophagus	oesophagus
19	chr5:95658000-95658800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:95658000-95659800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:95658000-95659800	Weak transcription	Osteobl	bone
22	chr5:95658000-95660000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:95658000-95660000	Weak transcription	HMEC	breast
24	chr5:95658000-95660200	Weak transcription	NHLF	lung
25	chr5:95658000-95664800	Weak transcription	HSMM	muscle

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