Variant report

Variant	rs6883290
Chromosome Location	chr5:95584848-95584849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10066966	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10073073	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10463169	0.90[ASN][1000 genomes]
rs10476669	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10866766	0.89[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11135447	0.88[ASN][1000 genomes]
rs11135448	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11135449	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11135451	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11742368	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11742915	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11749674	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12519062	0.90[ASN][1000 genomes]
rs12523580	0.87[ASN][1000 genomes]
rs12652939	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12652970	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12653663	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12659174	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13173638	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13183250	0.90[ASN][1000 genomes]
rs13190432	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13358858	0.90[ASN][1000 genomes]
rs1423673	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1498928	0.88[CHB][hapmap]
rs1695218	0.84[EUR][1000 genomes]
rs271917	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs271918	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs271940	0.84[EUR][1000 genomes]
rs2910933	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2936431	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3922469	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4267884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4301244	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4492136	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4559022	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4569897	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4626359	0.90[ASN][1000 genomes]
rs4869281	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56699153	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59090200	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59238624	0.90[ASN][1000 genomes]
rs61618257	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6556909	0.90[ASN][1000 genomes]
rs6862359	0.90[ASN][1000 genomes]
rs6877002	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877070	0.90[ASN][1000 genomes]
rs6877397	0.90[ASN][1000 genomes]
rs6878441	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6879773	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.90[TSI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6880865	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895145	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6895197	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6895503	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895664	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138312	0.90[ASN][1000 genomes]
rs73138313	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73138318	0.90[ASN][1000 genomes]
rs73138324	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73138336	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73138348	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73138350	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73138358	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73138366	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73138380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7447567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7700756	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7701835	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7706272	0.90[ASN][1000 genomes]
rs7707839	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7714065	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7725014	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7731306	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7733849	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7734553	0.90[ASN][1000 genomes]
rs7735346	0.90[ASN][1000 genomes]
rs7735670	0.82[AMR][1000 genomes];0.89[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	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	nsv882390	chr5:95486940-95591580	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95581000-95585400	Enhancers	Fetal Lung	lung
2	chr5:95581800-95585000	Enhancers	HepG2	liver
3	chr5:95582200-95585800	Enhancers	Fetal Brain Male	brain
4	chr5:95582800-95585200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:95583200-95590200	Weak transcription	A549	lung
6	chr5:95583200-95595200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:95583600-95586000	Weak transcription	Esophagus	oesophagus
8	chr5:95583800-95585200	Enhancers	HMEC	breast
9	chr5:95583800-95588800	Weak transcription	NH-A	brain
10	chr5:95583800-95590800	Weak transcription	Aorta	Aorta
11	chr5:95583800-95595000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:95583800-95595000	Weak transcription	Psoas Muscle	Psoas
13	chr5:95584000-95588400	Weak transcription	Osteobl	bone
14	chr5:95584000-95590600	Weak transcription	HSMMtube	muscle
15	chr5:95584000-95592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:95584200-95585600	Weak transcription	Pancreas	Pancrea
17	chr5:95584200-95586000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:95584200-95586000	Weak transcription	Left Ventricle	heart
19	chr5:95584200-95588200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:95584200-95588200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:95584200-95589000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:95584400-95588000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:95584400-95588200	Weak transcription	HSMM	muscle
24	chr5:95584600-95585200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95584600-95587600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:95584600-95590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:95584800-95585400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:95584800-95586400	Enhancers	NHEK	skin

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