Variant report

Variant	rs73283799
Chromosome Location	chr12:42703067-42703068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11829039	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829542	1.00[EUR][1000 genomes]
rs11830248	1.00[EUR][1000 genomes]
rs11830386	1.00[EUR][1000 genomes]
rs11831464	1.00[EUR][1000 genomes]
rs11832196	1.00[EUR][1000 genomes]
rs11832840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833011	1.00[EUR][1000 genomes]
rs11833109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833381	1.00[EUR][1000 genomes]
rs11834665	1.00[EUR][1000 genomes]
rs11837839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	1.00[EUR][1000 genomes]
rs17091023	1.00[EUR][1000 genomes]
rs1873684	1.00[EUR][1000 genomes]
rs2406968	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56691329	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs57490344	1.00[EUR][1000 genomes]
rs57647260	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57955254	1.00[EUR][1000 genomes]
rs58229270	1.00[EUR][1000 genomes]
rs58676357	1.00[EUR][1000 genomes]
rs59190545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59577937	1.00[EUR][1000 genomes]
rs59645146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60314019	1.00[EUR][1000 genomes]
rs60982601	1.00[EUR][1000 genomes]
rs61067658	1.00[EUR][1000 genomes]
rs7299386	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73270269	1.00[EUR][1000 genomes]
rs73270275	1.00[EUR][1000 genomes]
rs73270279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73270293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272004	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272008	1.00[EUR][1000 genomes]
rs73272013	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272046	1.00[EUR][1000 genomes]
rs73272047	1.00[EUR][1000 genomes]
rs73272050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272072	1.00[EUR][1000 genomes]
rs73272073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272080	1.00[EUR][1000 genomes]
rs73272091	1.00[EUR][1000 genomes]
rs73272101	1.00[EUR][1000 genomes]
rs73273911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273932	1.00[EUR][1000 genomes]
rs73273975	1.00[EUR][1000 genomes]
rs73281814	1.00[EUR][1000 genomes]
rs73281820	1.00[EUR][1000 genomes]
rs73281838	1.00[EUR][1000 genomes]
rs73281851	1.00[EUR][1000 genomes]
rs73281860	1.00[EUR][1000 genomes]
rs73281880	1.00[EUR][1000 genomes]
rs73281886	1.00[EUR][1000 genomes]
rs73281894	1.00[EUR][1000 genomes]
rs73283707	1.00[EUR][1000 genomes]
rs73283734	1.00[EUR][1000 genomes]
rs73283759	1.00[EUR][1000 genomes]
rs73283792	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285617	1.00[EUR][1000 genomes]
rs73285619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285631	1.00[AMR][1000 genomes]
rs73285641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73285670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824696	1.00[EUR][1000 genomes]
rs824731	1.00[EUR][1000 genomes]
rs824732	1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	1.00[EUR][1000 genomes]
rs824737	1.00[EUR][1000 genomes]
rs844045	1.00[EUR][1000 genomes]
rs850964	1.00[EUR][1000 genomes]
rs850965	1.00[EUR][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	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	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42690800-42706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:42693600-42706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:42693600-42719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:42693800-42705600	Weak transcription	Osteobl	bone
5	chr12:42693800-42708400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:42694000-42705000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:42694000-42706800	Weak transcription	A549	lung
8	chr12:42694000-42707000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:42695200-42710600	Weak transcription	GM12878-XiMat	blood
10	chr12:42695600-42714800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:42695800-42705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:42696200-42709000	Weak transcription	K562	blood
13	chr12:42696200-42718800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:42696800-42707000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr12:42697000-42718800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:42697200-42704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:42697200-42710600	Weak transcription	Ovary	ovary
18	chr12:42697400-42718000	Weak transcription	HepG2	liver
19	chr12:42698800-42706800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:42699400-42706800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:42699600-42718800	Weak transcription	HUVEC	blood vessel
22	chr12:42699800-42718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:42700000-42705200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:42700800-42716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:42701000-42706800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:42701200-42718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:42701400-42717400	Weak transcription	Pancreas	Pancrea
28	chr12:42701600-42706800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:42701800-42705600	Weak transcription	Liver	Liver
30	chr12:42701800-42706200	Weak transcription	Adipose Nuclei	Adipose
31	chr12:42701800-42706800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:42701800-42707000	Weak transcription	Fetal Brain Female	brain
33	chr12:42701800-42712200	Weak transcription	Thymus	Thymus
34	chr12:42701800-42718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:42701800-42718800	Weak transcription	Brain Angular Gyrus	brain
36	chr12:42701800-42719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:42702000-42705000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:42702000-42706800	Weak transcription	Fetal Thymus	thymus
39	chr12:42702000-42707400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:42702200-42705000	Weak transcription	Left Ventricle	heart
41	chr12:42702200-42706800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:42702200-42718600	Weak transcription	Brain Substantia Nigra	brain
43	chr12:42702400-42707000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:42702400-42714600	Weak transcription	Brain Germinal Matrix	brain
45	chr12:42702600-42704400	Weak transcription	Fetal Stomach	stomach
46	chr12:42702600-42704600	Weak transcription	HSMMtube	muscle
47	chr12:42702600-42705000	Weak transcription	Fetal Intestine Small	intestine
48	chr12:42702600-42706600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:42702600-42706800	Weak transcription	Placenta	Placenta
50	chr12:42702600-42707000	Weak transcription	Primary T cells from cord blood	blood

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