Variant report

Variant	rs17083213
Chromosome Location	chr5:92886469-92886470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10041792	0.86[JPT][hapmap]
rs1004941	0.86[JPT][hapmap]
rs10050364	0.85[JPT][hapmap]
rs10051878	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10060331	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs10067541	0.86[JPT][hapmap]
rs10071040	0.86[JPT][hapmap]
rs1038686	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs1046217	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10476520	0.86[JPT][hapmap]
rs10514376	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11135388	0.91[EUR][1000 genomes]
rs11951859	0.88[EUR][1000 genomes]
rs11952115	0.93[EUR][1000 genomes]
rs11952600	0.90[EUR][1000 genomes]
rs11960608	0.93[EUR][1000 genomes]
rs12186735	0.93[ASN][1000 genomes]
rs12187239	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188716	0.93[ASN][1000 genomes]
rs12188845	0.90[EUR][1000 genomes]
rs12188905	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13154650	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs13161885	0.86[JPT][hapmap]
rs1370977	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1457101	0.91[EUR][1000 genomes]
rs17082127	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17082129	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083145	0.88[EUR][1000 genomes]
rs17083155	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083181	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083191	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083194	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083198	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083200	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083228	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083278	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17083297	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17312456	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs17370695	0.93[ASN][1000 genomes]
rs1824153	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1844343	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083227	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279473	0.93[ASN][1000 genomes]
rs2344387	0.90[EUR][1000 genomes]
rs3776601	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.93[ASN][1000 genomes]
rs55861967	0.88[EUR][1000 genomes]
rs57165666	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57690257	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59360932	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324921	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61352323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556823	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6556824	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556826	0.82[EUR][1000 genomes]
rs6556829	0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs6866771	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877616	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs6879816	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880843	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6884138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6889857	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6890998	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs6895356	0.86[JPT][hapmap]
rs6898507	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs73133214	0.85[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133217	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133226	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133228	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133239	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133251	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133254	0.88[EUR][1000 genomes]
rs73133258	0.90[EUR][1000 genomes]
rs73133261	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133265	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133275	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133278	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133280	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133282	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133289	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133292	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133301	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135313	0.90[EUR][1000 genomes]
rs73135320	0.93[ASN][1000 genomes]
rs73135321	0.93[ASN][1000 genomes]
rs73772907	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7702348	0.86[JPT][hapmap]
rs7702649	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs7712388	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7712899	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715034	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7717718	0.86[JPT][hapmap]
rs7721168	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7721509	1.00[CHB][hapmap]
rs7727107	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7736624	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs9314086	0.87[CHD][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022355	chr5:92846496-92911797	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
2	nsv537807	chr5:92846496-92911797	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
3	nsv882382	chr5:92853645-92891029	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	lncRNA	8 gene(s)	inside rSNPs	n/a
4	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92856800-92887200	Weak transcription	HUVEC	blood vessel
2	chr5:92859200-92905000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:92859400-92905000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:92859400-92905600	Weak transcription	Placenta	Placenta
5	chr5:92859600-92900400	Weak transcription	Fetal Intestine Small	intestine
6	chr5:92860000-92908000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:92862800-92887800	Weak transcription	Brain Germinal Matrix	brain
8	chr5:92867200-92888800	Weak transcription	Ovary	ovary
9	chr5:92868600-92900200	Weak transcription	Hela-S3	cervix
10	chr5:92868800-92887800	Weak transcription	NHDF-Ad	bronchial
11	chr5:92872400-92887800	Weak transcription	Adipose Nuclei	Adipose
12	chr5:92872800-92895400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:92874200-92887600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:92874200-92896800	Weak transcription	Fetal Stomach	stomach
15	chr5:92874800-92894800	Weak transcription	NH-A	brain
16	chr5:92876000-92889200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:92877200-92895000	Weak transcription	HSMM	muscle
18	chr5:92878600-92887600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:92878800-92888800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:92878800-92888800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:92879000-92888000	Weak transcription	Fetal Brain Female	brain
22	chr5:92880000-92887800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:92880200-92889000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:92880400-92887600	Weak transcription	Fetal Kidney	kidney
25	chr5:92881200-92889200	Weak transcription	Osteobl	bone
26	chr5:92881400-92887800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:92881800-92887800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:92882000-92887800	Weak transcription	NHLF	lung
29	chr5:92882400-92886800	Strong transcription	Fetal Lung	lung
30	chr5:92883200-92900800	Weak transcription	Fetal Brain Male	brain
31	chr5:92885400-92891600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:92885600-92899800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:92885800-92892000	Strong transcription	Muscle Satellite Cultured Cells	--

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