Variant report

Variant	rs12218639
Chromosome Location	chr10:48573990-48573991
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	chr10:48573259..48576256-chr10:48576994..48579438,2	K562	blood:
2	chr10:48573686..48575783-chr10:48577715..48579517,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10888204	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204275	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11204279	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1452290	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1584730	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1584731	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2257629	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2790957	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4147455	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4336968	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4489675	0.85[EUR][1000 genomes]
rs4922523	0.84[EUR][1000 genomes]
rs57691103	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58376504	0.83[EUR][1000 genomes]
rs61442046	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61843411	0.81[EUR][1000 genomes]
rs61843412	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61843447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72642126	0.81[EUR][1000 genomes]
rs786776	0.83[ASN][1000 genomes]
rs786777	0.93[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12218639	TP53I13	trans	cerebellum	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:48571200-48574400	Enhancers	NH-A	brain
2	chr10:48571400-48574800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr10:48572000-48574000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:48572000-48574000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:48572200-48574400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr10:48572200-48575000	Enhancers	NHLF	lung
7	chr10:48572600-48574000	Enhancers	Spleen	Spleen
8	chr10:48572600-48574800	Enhancers	Lung	lung
9	chr10:48572800-48574000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr10:48572800-48574200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr10:48572800-48575000	Enhancers	HMEC	breast
12	chr10:48573000-48574000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr10:48573000-48574000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr10:48573000-48574000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr10:48573000-48574000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:48573000-48574000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:48573000-48574200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr10:48573000-48574200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:48573000-48574400	Enhancers	Stomach Mucosa	stomach
20	chr10:48573000-48575200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:48573200-48574000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr10:48573200-48574000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:48573200-48574000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:48573200-48574000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:48573200-48574000	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr10:48573400-48574000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:48573400-48574000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr10:48573400-48574800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:48573600-48574000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
30	chr10:48573600-48574000	Enhancers	Fetal Brain Male	brain
31	chr10:48573600-48574000	Active TSS	Thymus	Thymus
32	chr10:48573600-48574200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr10:48573600-48574200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr10:48573600-48574400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
35	chr10:48573600-48574400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr10:48573600-48574800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr10:48573600-48574800	Enhancers	Fetal Stomach	stomach
38	chr10:48573600-48575000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:48573600-48575400	Enhancers	NHEK	skin
40	chr10:48573800-48574000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
41	chr10:48573800-48574000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr10:48573800-48574000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr10:48573800-48574000	Enhancers	Colonic Mucosa	Colon
44	chr10:48573800-48574000	Enhancers	Duodenum Mucosa	Duodenum
45	chr10:48573800-48574000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr10:48573800-48574000	Enhancers	Right Atrium	heart
47	chr10:48573800-48574000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr10:48573800-48574200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr10:48573800-48574200	Enhancers	Colon Smooth Muscle	Colon
50	chr10:48573800-48574200	Enhancers	Duodenum Smooth Muscle	Duodenum

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