Variant report

Variant	rs73138380
Chromosome Location	chr5:95587383-95587384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10066966	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10073073	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10463169	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10476669	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10866766	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11135447	0.88[ASN][1000 genomes]
rs11135448	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11135449	0.84[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	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11742915	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11749674	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12519062	0.90[ASN][1000 genomes]
rs12523580	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12652939	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12652970	0.81[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]
rs1695218	0.84[EUR][1000 genomes]
rs271917	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	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077817	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4267884	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4301244	0.84[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	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4626359	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4869281	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56699153	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59090200	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59238624	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61618257	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6556909	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6862359	0.90[ASN][1000 genomes]
rs6877002	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877070	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6877397	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6878441	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6879773	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6880865	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6883290	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895145	0.81[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	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6895664	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73138312	0.90[ASN][1000 genomes]
rs73138313	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73138318	0.90[ASN][1000 genomes]
rs73138324	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73138336	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73138348	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73138350	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73138358	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73138366	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7447567	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	0.87[AMR][1000 genomes];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	0.90[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	0.90[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95583200-95590200	Weak transcription	A549	lung
2	chr5:95583200-95595200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:95583800-95588800	Weak transcription	NH-A	brain
4	chr5:95583800-95590800	Weak transcription	Aorta	Aorta
5	chr5:95583800-95595000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:95583800-95595000	Weak transcription	Psoas Muscle	Psoas
7	chr5:95584000-95588400	Weak transcription	Osteobl	bone
8	chr5:95584000-95590600	Weak transcription	HSMMtube	muscle
9	chr5:95584000-95592400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:95584200-95588200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:95584200-95588200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:95584200-95589000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:95584400-95588000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:95584400-95588200	Weak transcription	HSMM	muscle
15	chr5:95584600-95587600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:95584600-95590000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:95585000-95594600	Weak transcription	HepG2	liver
18	chr5:95585200-95588000	Weak transcription	HMEC	breast
19	chr5:95585400-95590200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:95585400-95590800	Weak transcription	Fetal Lung	lung
21	chr5:95586200-95588000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:95586200-95591400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:95586200-95595000	Weak transcription	Pancreas	Pancrea
24	chr5:95586400-95587800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:95586400-95588200	Weak transcription	NHEK	skin

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