Variant report

Variant	rs2279563
Chromosome Location	chr12:62584926-62584927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10784289	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877807	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877808	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877809	0.80[ASN][1000 genomes]
rs10877810	0.80[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877811	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877812	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11174363	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174365	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174367	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174371	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12312235	0.80[ASN][1000 genomes]
rs12319281	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12582117	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320937	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1907971	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2359736	0.80[AFR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137540	0.80[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7307385	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312872	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73319546	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62583200-62586800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:62583400-62585000	Active TSS	Brain Angular Gyrus	brain
3	chr12:62583400-62585000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:62583600-62586000	Active TSS	Ovary	ovary
5	chr12:62583600-62586800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
6	chr12:62583800-62586200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:62583800-62586600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:62583800-62586600	Active TSS	Aorta	Aorta
9	chr12:62584000-62585000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
10	chr12:62584000-62585200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
11	chr12:62584000-62586000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr12:62584000-62586200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr12:62584000-62586400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:62584000-62586600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
15	chr12:62584000-62586600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
16	chr12:62584200-62585000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
17	chr12:62584200-62585000	Bivalent/Poised TSS	Fetal Brain Male	brain
18	chr12:62584200-62585200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr12:62584200-62585200	Bivalent Enhancer	Fetal Heart	heart
20	chr12:62584200-62586600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:62584200-62586600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:62584200-62586600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr12:62584200-62586800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr12:62584200-62586800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
25	chr12:62584400-62585200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:62584400-62585200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
27	chr12:62584400-62585200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr12:62584400-62585400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:62584400-62585800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
30	chr12:62584400-62586000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:62584400-62586200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
34	chr12:62584400-62586600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr12:62584600-62585000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:62584600-62585000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:62584600-62585000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
38	chr12:62584600-62585000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr12:62584600-62585000	Active TSS	Brain Substantia Nigra	brain
40	chr12:62584600-62585000	Bivalent/Poised TSS	Colonic Mucosa	Colon
41	chr12:62584600-62585000	Enhancers	Spleen	Spleen
42	chr12:62584600-62585200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:62584600-62585200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
44	chr12:62584600-62585200	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr12:62584600-62585400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:62584600-62585400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:62584600-62585600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:62584600-62585600	Flanking Active TSS	Pancreas	Pancrea
49	chr12:62584600-62585800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
50	chr12:62584600-62586000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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