Variant report

Variant	rs73281897
Chromosome Location	chr12:42620405-42620406
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11385212	1.00[AMR][1000 genomes]
rs1234113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1683193	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2639125	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2639128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56669009	1.00[AMR][1000 genomes]
rs56945323	1.00[AMR][1000 genomes]
rs57166587	0.83[AMR][1000 genomes]
rs57260154	0.83[AMR][1000 genomes]
rs57549495	1.00[AMR][1000 genomes]
rs57582332	1.00[AMR][1000 genomes]
rs58108857	0.85[AMR][1000 genomes]
rs58902406	0.83[AMR][1000 genomes]
rs60327465	1.00[AMR][1000 genomes]
rs712113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7132315	1.00[AMR][1000 genomes]
rs7136339	0.83[AMR][1000 genomes]
rs7298660	1.00[AMR][1000 genomes]
rs7303532	0.83[AMR][1000 genomes]
rs73272006	0.83[AMR][1000 genomes]
rs73272039	0.83[AMR][1000 genomes]
rs73272041	0.83[AMR][1000 genomes]
rs73272052	0.83[AMR][1000 genomes]
rs73272054	0.83[AMR][1000 genomes]
rs73272065	0.83[AMR][1000 genomes]
rs73273905	0.83[AMR][1000 genomes]
rs73273908	0.83[AMR][1000 genomes]
rs73273915	0.83[AMR][1000 genomes]
rs73280016	1.00[AMR][1000 genomes]
rs73280025	1.00[AMR][1000 genomes]
rs73280038	0.85[AMR][1000 genomes]
rs73280040	1.00[AMR][1000 genomes]
rs73280047	1.00[AMR][1000 genomes]
rs73280057	0.85[AMR][1000 genomes]
rs73280063	1.00[AMR][1000 genomes]
rs73280071	1.00[AMR][1000 genomes]
rs73280079	1.00[AMR][1000 genomes]
rs73280085	1.00[AMR][1000 genomes]
rs73280087	1.00[AMR][1000 genomes]
rs73280101	1.00[AMR][1000 genomes]
rs73281848	1.00[AMR][1000 genomes]
rs73281857	1.00[AMR][1000 genomes]
rs73281868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281890	1.00[AMR][1000 genomes]
rs73283703	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73283726	1.00[AMR][1000 genomes]
rs73283728	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283731	1.00[AMR][1000 genomes]
rs73283737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283752	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283757	1.00[AMR][1000 genomes]
rs73283764	1.00[AMR][1000 genomes]
rs73283782	0.83[AMR][1000 genomes]
rs73285606	0.83[AMR][1000 genomes]
rs73285607	0.83[AMR][1000 genomes]
rs73285610	0.83[AMR][1000 genomes]
rs73285625	0.83[AMR][1000 genomes]
rs73285647	0.83[AMR][1000 genomes]
rs73285664	0.83[AMR][1000 genomes]
rs73285666	0.83[AMR][1000 genomes]
rs73285678	0.83[AMR][1000 genomes]
rs7957401	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960285	1.00[AMR][1000 genomes]
rs7964994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs850828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs864291	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs864298	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9669751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:42568400-42623400	Weak transcription	K562	blood
3	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
5	chr12:42569800-42631000	Weak transcription	Gastric	stomach
6	chr12:42575600-42628600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:42586800-42630000	Weak transcription	Fetal Kidney	kidney
8	chr12:42587200-42629600	Weak transcription	Lung	lung
9	chr12:42587800-42623400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr12:42588400-42628600	Weak transcription	Thymus	Thymus
11	chr12:42591600-42628200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:42602400-42628600	Weak transcription	Spleen	Spleen
13	chr12:42602400-42630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:42602800-42628800	Weak transcription	HepG2	liver
15	chr12:42603600-42625800	Weak transcription	GM12878-XiMat	blood
16	chr12:42604400-42623400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:42604400-42627400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:42604400-42628000	Weak transcription	Placenta	Placenta
19	chr12:42604600-42624400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:42604600-42626800	Weak transcription	Hela-S3	cervix
21	chr12:42604600-42628800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:42604600-42629000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:42607800-42630600	Weak transcription	NHEK	skin
24	chr12:42608000-42627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:42608200-42624200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:42608200-42628600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:42608200-42630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:42608400-42628600	Weak transcription	Brain Angular Gyrus	brain
29	chr12:42608400-42628600	Weak transcription	Pancreas	Pancrea
30	chr12:42608400-42629000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:42609800-42631000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:42612000-42628600	Weak transcription	Adipose Nuclei	Adipose
33	chr12:42612200-42623400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:42612200-42628600	Weak transcription	NHDF-Ad	bronchial
35	chr12:42612200-42628800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:42612400-42627600	Weak transcription	HSMM	muscle
37	chr12:42613400-42624200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:42613400-42626800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:42613400-42629400	Weak transcription	Right Ventricle	heart
40	chr12:42613600-42627400	Weak transcription	Psoas Muscle	Psoas
41	chr12:42613600-42628800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:42613600-42628800	Weak transcription	HSMMtube	muscle
43	chr12:42613600-42631000	Weak transcription	Ovary	ovary
44	chr12:42613800-42630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:42614000-42628600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:42614600-42627400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:42615400-42627400	Weak transcription	Left Ventricle	heart
48	chr12:42615600-42628600	Weak transcription	Small Intestine	intestine
49	chr12:42615800-42623200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:42616200-42625400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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