Variant report

Variant	rs73305098
Chromosome Location	chr12:50072997-50072998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50042864..50045064-chr12:50072583..50074493,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1049986	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875964	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875968	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11169069	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169070	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11169073	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169076	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169081	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169082	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11169092	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169097	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11169101	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11169104	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169106	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169109	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169111	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169112	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169113	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11169118	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169125	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11169127	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169133	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169140	0.81[AMR][1000 genomes]
rs11615488	0.92[ASN][1000 genomes]
rs11833411	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11834380	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296586	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299505	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12299513	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12301824	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12303310	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304796	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12305460	0.84[ASN][1000 genomes]
rs12308256	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12309940	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310510	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311839	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12314795	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314878	0.83[ASN][1000 genomes]
rs12315224	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316284	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12317646	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320556	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12321169	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12321819	0.83[ASN][1000 genomes]
rs13066	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13906	0.83[ASN][1000 genomes]
rs1470906	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574326	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123808	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2005195	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2241418	0.83[ASN][1000 genomes]
rs2278068	0.83[ASN][1000 genomes]
rs2278069	0.83[ASN][1000 genomes]
rs2278070	0.80[ASN][1000 genomes]
rs2303305	0.80[ASN][1000 genomes]
rs2336058	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2878532	0.85[AMR][1000 genomes]
rs3815832	0.83[ASN][1000 genomes]
rs3887728	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4045193	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4133070	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4563	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4584654	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs52824916	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55853522	0.83[ASN][1000 genomes]
rs57191490	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57342147	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57463238	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57916875	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58278271	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58446833	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59233136	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59849800	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59940006	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60121503	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60402517	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61512987	0.81[AMR][1000 genomes]
rs61616163	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61620972	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61710637	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580719	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131915	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7136052	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137976	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296281	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7299002	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301209	0.83[ASN][1000 genomes]
rs7306877	0.83[ASN][1000 genomes]
rs7309607	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7312658	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7313738	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73305008	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305012	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73305085	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73306808	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309030	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74089182	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7688	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7952734	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953911	0.83[ASN][1000 genomes]
rs7954994	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955586	0.97[ASN][1000 genomes]
rs7956089	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956181	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962645	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962863	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7963954	0.89[ASN][1000 genomes]
rs7965658	0.81[ASN][1000 genomes]
rs7967624	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7970241	0.83[ASN][1000 genomes]
rs7973389	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975599	0.83[ASN][1000 genomes]
rs7977389	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979262	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980979	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs876889	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs897056	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9804749	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804971	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50067800-50075200	Weak transcription	Primary B cells from cord blood	blood
2	chr12:50068200-50077400	Weak transcription	Spleen	Spleen
3	chr12:50068200-50077800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:50068600-50077600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:50068600-50083600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:50069000-50076800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50069200-50077600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:50069200-50078400	Weak transcription	NHLF	lung
9	chr12:50069400-50073000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:50069400-50073400	Weak transcription	Lung	lung
11	chr12:50069400-50073800	Weak transcription	Right Ventricle	heart
12	chr12:50069400-50074000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:50069400-50074000	Weak transcription	NHDF-Ad	bronchial
14	chr12:50069400-50076600	Weak transcription	Fetal Thymus	thymus
15	chr12:50069400-50076800	Weak transcription	Right Atrium	heart
16	chr12:50069400-50077000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:50069400-50077600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:50069400-50077600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:50069400-50077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:50069400-50078000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:50069600-50074600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:50069600-50077000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr12:50069600-50078000	Weak transcription	Brain Angular Gyrus	brain
24	chr12:50069600-50078400	Weak transcription	HSMM	muscle
25	chr12:50069600-50078600	Weak transcription	Small Intestine	intestine
26	chr12:50069800-50073800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:50069800-50076600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:50069800-50076800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:50070000-50073600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr12:50070000-50083400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:50070200-50073400	Weak transcription	Ovary	ovary
32	chr12:50070200-50076800	Weak transcription	HSMMtube	muscle
33	chr12:50070200-50077600	Weak transcription	Brain Hippocampus Middle	brain
34	chr12:50070200-50077800	Weak transcription	Brain Anterior Caudate	brain
35	chr12:50070200-50077800	Weak transcription	Fetal Stomach	stomach
36	chr12:50070600-50074000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:50070600-50074000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:50070600-50074200	Weak transcription	Fetal Lung	lung
39	chr12:50070800-50076800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:50071200-50074000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:50071200-50076800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:50071200-50077400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:50071400-50074600	Weak transcription	GM12878-XiMat	blood
44	chr12:50071600-50076600	Weak transcription	Primary T cells from cord blood	blood
45	chr12:50071600-50076600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:50072200-50074200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:50072400-50073200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:50072400-50073200	Enhancers	Osteobl	bone
49	chr12:50072400-50075200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:50072800-50075000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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