Variant report

Variant	rs72709590
Chromosome Location	chr1:159061972-159061973
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	chr1:159057678..159060564-chr1:159061806..159064671,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs41264141	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41264447	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55762293	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55783705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55940565	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56046690	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56077216	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56208680	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56387666	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56390355	0.89[EUR][1000 genomes]
rs61533256	0.86[EUR][1000 genomes]
rs62621173	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68180890	0.82[EUR][1000 genomes]
rs72704983	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72704986	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72704995	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72709516	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709518	0.83[AMR][1000 genomes]
rs72709521	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709522	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709523	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709525	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709526	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709528	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709530	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709532	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709533	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709535	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709548	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709549	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709553	0.89[EUR][1000 genomes]
rs72709557	0.89[EUR][1000 genomes]
rs72709567	0.89[EUR][1000 genomes]
rs72709568	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709569	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709570	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709573	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72709576	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72709578	0.89[EUR][1000 genomes]
rs72709580	0.89[EUR][1000 genomes]
rs72709586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72709591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs855869	0.92[EUR][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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159051200-159063400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:159055600-159062200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr1:159056200-159063400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:159057400-159062800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:159057800-159062600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:159059400-159062600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:159060000-159062600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:159060400-159062600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:159060400-159062600	Enhancers	HSMM	muscle
10	chr1:159060400-159062800	Enhancers	HUVEC	blood vessel
11	chr1:159060600-159062200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:159060600-159062400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:159060600-159062600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:159060600-159062600	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:159060600-159062600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:159060800-159062600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr1:159061000-159062400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:159061000-159062400	Enhancers	HSMMtube	muscle
19	chr1:159061000-159062400	Flanking Active TSS	NHEK	skin
20	chr1:159061000-159062800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:159061400-159062000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:159061400-159062200	Weak transcription	Spleen	Spleen
23	chr1:159061400-159062400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr1:159061400-159062400	Enhancers	A549	lung
25	chr1:159061400-159062600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:159061600-159062400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:159061600-159062400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:159061600-159062600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:159061600-159062600	Enhancers	Esophagus	oesophagus
30	chr1:159061600-159062600	Enhancers	NH-A	brain
31	chr1:159061800-159062200	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr1:159061800-159062200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:159061800-159062200	Active TSS	NHLF	lung
34	chr1:159061800-159062600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:159061800-159062600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:159061800-159062600	Enhancers	NHDF-Ad	bronchial
37	chr1:159061800-159062600	Enhancers	Osteobl	bone
38	chr1:159061800-159063400	Enhancers	Hela-S3	cervix
39	chr1:159061800-159063400	Enhancers	HMEC	breast

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