Variant report

Variant	rs73305085
Chromosome Location	chr12:50056233-50056234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50053639..50056299-chr12:50060265..50061800,2	K562	blood:
2	chr12:50020139..50023155-chr12:50054271..50057275,3	K562	blood:
3	chr12:50048898..50051795-chr12:50055733..50057406,4	K562	blood:
4	chr12:50055936..50058449-chr12:50062400..50065896,4	K562	blood:
5	chr12:50052702..50054208-chr12:50054254..50056732,2	K562	blood:
6	chr12:50054459..50059214-chr12:50133848..50137587,7	K562	blood:
7	chr12:50054963..50057045-chr12:50065991..50068572,3	K562	blood:
8	chr12:50054340..50058502-chr12:50061913..50069673,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000139644	Chromatin interaction
ENSG00000161791	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1049986	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875964	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10875968	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11169069	0.81[ASN][1000 genomes]
rs11169070	0.84[AMR][1000 genomes]
rs11169073	0.81[ASN][1000 genomes]
rs11169076	0.81[ASN][1000 genomes]
rs11169081	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11169082	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11169092	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169097	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169101	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11169104	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169106	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169109	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169111	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169112	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169113	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11169118	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169125	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11169127	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11169133	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11169140	0.81[AMR][1000 genomes]
rs11615488	0.89[ASN][1000 genomes]
rs11833411	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11834380	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12296586	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12299505	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12299513	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12301824	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12303310	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12304796	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12305460	0.82[ASN][1000 genomes]
rs12308256	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12309940	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12310510	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12311839	0.81[ASN][1000 genomes]
rs12314795	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12314878	0.81[ASN][1000 genomes]
rs12315224	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12315791	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12316284	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12317646	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12320556	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12321169	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12321819	0.81[ASN][1000 genomes]
rs13066	0.81[ASN][1000 genomes]
rs13906	0.81[ASN][1000 genomes]
rs1470906	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1574326	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17123808	0.81[ASN][1000 genomes]
rs2005195	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2241418	0.81[ASN][1000 genomes]
rs2278068	0.81[ASN][1000 genomes]
rs2278069	0.81[ASN][1000 genomes]
rs2336058	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2878532	0.85[AMR][1000 genomes]
rs3815832	0.81[ASN][1000 genomes]
rs3887728	0.81[ASN][1000 genomes]
rs4045193	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4133070	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4563	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4584654	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs52824916	0.85[AMR][1000 genomes]
rs55853522	0.81[ASN][1000 genomes]
rs57191490	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57342147	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57463238	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57916875	0.85[AMR][1000 genomes]
rs58278271	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58446833	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59233136	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59849800	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59940006	0.81[ASN][1000 genomes]
rs60121503	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs60402517	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61512987	0.81[AMR][1000 genomes]
rs61616163	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61620972	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61710637	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6580719	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131915	0.81[ASN][1000 genomes]
rs7136052	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137976	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7296281	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7299002	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301209	0.81[ASN][1000 genomes]
rs7306877	0.80[ASN][1000 genomes]
rs7309607	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7312658	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7313738	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73305008	0.81[ASN][1000 genomes]
rs73305012	0.81[ASN][1000 genomes]
rs73305098	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];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73309030	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74089182	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7688	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7952734	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7953911	0.81[ASN][1000 genomes]
rs7954994	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7955586	0.94[ASN][1000 genomes]
rs7956089	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956181	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7962645	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7962863	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7963954	0.87[ASN][1000 genomes]
rs7967624	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7970241	0.81[ASN][1000 genomes]
rs7973389	0.81[ASN][1000 genomes]
rs7975599	0.81[ASN][1000 genomes]
rs7977389	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7979262	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7980979	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs876889	0.84[AMR][1000 genomes]
rs897056	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9804749	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9804971	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[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	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	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
4	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50030800-50057000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:50034800-50056400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:50034800-50056600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:50035600-50056400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:50042400-50056400	Strong transcription	HSMM	muscle
6	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
7	chr12:50044400-50057000	Weak transcription	Esophagus	oesophagus
8	chr12:50046400-50056800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:50047400-50056600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:50048000-50056400	Weak transcription	NHDF-Ad	bronchial
11	chr12:50050000-50056400	Weak transcription	HMEC	breast
12	chr12:50051000-50058200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:50052400-50056800	Weak transcription	Aorta	Aorta
15	chr12:50052400-50058400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr12:50052400-50064800	Weak transcription	Fetal Kidney	kidney
17	chr12:50052600-50056600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:50052600-50059200	Weak transcription	Brain Germinal Matrix	brain
19	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
21	chr12:50052800-50056400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:50052800-50057000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:50052800-50057000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:50053200-50056600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:50053600-50060000	Enhancers	Adipose Nuclei	Adipose
26	chr12:50053800-50057200	Weak transcription	Brain Angular Gyrus	brain
27	chr12:50053800-50059200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:50054000-50056600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:50054200-50056400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr12:50054200-50056400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr12:50054200-50056600	Genic enhancers	Fetal Thymus	thymus
32	chr12:50054200-50058200	Enhancers	Spleen	Spleen
33	chr12:50054400-50056400	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:50054400-50056600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:50054400-50056600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr12:50054400-50059000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:50054400-50059600	Enhancers	Right Atrium	heart
38	chr12:50054400-50060200	Enhancers	Placenta	Placenta
39	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
40	chr12:50054600-50056400	Enhancers	Primary hematopoietic stem cells	blood
41	chr12:50054600-50056400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr12:50054600-50056400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:50054600-50056600	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:50054600-50056600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr12:50054600-50061000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr12:50054800-50056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:50054800-50057200	Weak transcription	Gastric	stomach
48	chr12:50055000-50056600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:50055000-50056600	Genic enhancers	HUVEC	blood vessel
50	chr12:50055200-50056600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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