Variant report

Variant	rs479942
Chromosome Location	chr19:39564174-39564175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1268234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs471217	1.00[AMR][1000 genomes]
rs514968	1.00[AMR][1000 genomes]
rs595610	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691381	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv522530	chr19:39552150-39573918	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39545200-39564400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:39557000-39564400	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:39562000-39564200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:39562000-39570000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr19:39562400-39564400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:39563000-39564400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr19:39563000-39565200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:39563000-39565600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:39563000-39565800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:39563200-39564600	Enhancers	Placenta	Placenta
11	chr19:39563200-39565200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:39563200-39565200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr19:39563200-39565400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:39563200-39565400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:39563200-39565400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr19:39563200-39565400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr19:39563600-39564200	Enhancers	A549	lung
18	chr19:39563600-39565200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:39563600-39565400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr19:39563800-39564800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:39563800-39565000	Enhancers	Primary T cells from cord blood	blood
22	chr19:39563800-39565000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr19:39563800-39565200	Enhancers	Primary hematopoietic stem cells	blood
24	chr19:39563800-39565200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr19:39563800-39565200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr19:39563800-39565200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:39563800-39565200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:39563800-39565200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:39563800-39565200	Enhancers	Hela-S3	cervix
30	chr19:39563800-39565200	Enhancers	HMEC	breast
31	chr19:39563800-39565200	Enhancers	NHEK	skin
32	chr19:39563800-39565200	Enhancers	Osteobl	bone
33	chr19:39563800-39565400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:39563800-39565400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:39563800-39565800	Enhancers	HUVEC	blood vessel
36	chr19:39564000-39564600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:39564000-39564600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr19:39564000-39565000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:39564000-39565200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr19:39564000-39565800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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