Variant report

Variant	rs2518563
Chromosome Location	chr1:159059969-159059970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159057678..159060564-chr1:159061806..159064671,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1894043	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2078723	0.90[ASN][1000 genomes]
rs2518564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518565	0.90[ASN][1000 genomes]
rs2814757	0.86[ASN][1000 genomes]
rs2814759	0.90[ASN][1000 genomes]
rs2814760	0.90[ASN][1000 genomes]
rs2814764	1.00[ASN][1000 genomes]
rs2852723	0.90[ASN][1000 genomes]
rs855866	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs855867	0.96[ASN][1000 genomes]
rs855871	0.91[ASN][1000 genomes]
rs856046	0.92[AFR][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	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2518563	AIM2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159051200-159063400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:159053600-159061400	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:159055600-159062200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:159055800-159061600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:159056200-159063400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:159056600-159060600	Weak transcription	Spleen	Spleen
7	chr1:159057400-159062800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:159057600-159060600	Enhancers	HMEC	breast
9	chr1:159057800-159061000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:159057800-159061000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:159057800-159061000	Enhancers	NHEK	skin
12	chr1:159057800-159061200	Enhancers	Hela-S3	cervix
13	chr1:159057800-159061400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:159057800-159062600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:159058400-159060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:159058400-159061200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:159058600-159060000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:159058600-159060400	Weak transcription	HSMM	muscle
19	chr1:159058600-159060400	Weak transcription	NHLF	lung
20	chr1:159058600-159060600	Weak transcription	NH-A	brain
21	chr1:159058600-159061400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:159058800-159060400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:159058800-159060600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:159058800-159061400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:159059000-159060400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:159059000-159060400	Weak transcription	HUVEC	blood vessel
27	chr1:159059000-159060400	Weak transcription	Osteobl	bone
28	chr1:159059200-159060200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:159059400-159060600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:159059400-159062600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:159059800-159060000	Enhancers	Esophagus	oesophagus
32	chr1:159059800-159060600	Weak transcription	Primary B cells from cord blood	blood
33	chr1:159059800-159060600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:159059800-159061400	Enhancers	NHDF-Ad	bronchial

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