Variant report

Variant	rs59253523
Chromosome Location	chr3:46141827-46141828
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:20)

rs_ID	r²[population]
rs1500006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17078579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41395345	1.00[AMR][1000 genomes]
rs57509359	1.00[AMR][1000 genomes]
rs57857531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58692140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59862185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60829665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854606	1.00[AMR][1000 genomes]
rs73830722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830725	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830733	1.00[AFR][1000 genomes]
rs73830737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830784	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:46130600-46143000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
5	chr3:46136800-46143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:46137400-46142600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr3:46138200-46142800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr3:46139200-46150600	Weak transcription	Lung	lung
9	chr3:46140400-46142000	Enhancers	Dnd41	blood
10	chr3:46140400-46142600	Enhancers	Fetal Thymus	thymus
11	chr3:46140400-46143400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:46140400-46144000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:46140400-46144400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:46140400-46146000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:46140400-46149200	Weak transcription	NHLF	lung
16	chr3:46140400-46150000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:46140600-46142200	Enhancers	Primary hematopoietic stem cells	blood
18	chr3:46140600-46142600	Enhancers	GM12878-XiMat	blood
19	chr3:46140600-46144000	Weak transcription	NHDF-Ad	bronchial
20	chr3:46140600-46144200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:46140600-46146200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:46140600-46150000	Weak transcription	Hela-S3	cervix
23	chr3:46140600-46150000	Weak transcription	HMEC	breast
24	chr3:46140800-46150000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:46141000-46144000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:46141000-46146000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr3:46141000-46148800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr3:46141000-46150200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:46141200-46144200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:46141200-46144400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:46141200-46145800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr3:46141600-46142200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:46141600-46142200	Enhancers	Adipose Nuclei	Adipose
34	chr3:46141600-46142200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr3:46141600-46142600	Enhancers	Primary B cells from peripheral blood	blood
36	chr3:46141800-46142000	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr3:46141800-46142000	Enhancers	Placenta	Placenta
38	chr3:46141800-46142000	Bivalent Enhancer	Thymus	Thymus

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