Variant report

Variant	rs72928304
Chromosome Location	chr3:69216047-69216048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs4282065	1.00[EUR][1000 genomes]
rs4428184	1.00[EUR][1000 genomes]
rs56815074	0.83[AMR][1000 genomes]
rs57600863	0.86[ASN][1000 genomes]
rs57671407	0.83[AMR][1000 genomes]
rs57765607	0.83[AMR][1000 genomes]
rs60770504	0.83[AMR][1000 genomes]
rs6763046	1.00[EUR][1000 genomes]
rs6764666	0.83[AMR][1000 genomes]
rs6765197	1.00[EUR][1000 genomes]
rs6806271	1.00[EUR][1000 genomes]
rs6808756	0.87[EUR][1000 genomes]
rs72928308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72928330	0.94[ASN][1000 genomes]
rs7609655	1.00[EUR][1000 genomes]
rs9310139	1.00[EUR][1000 genomes]
rs9853232	1.00[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	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 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	chr3:69209600-69228000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:69211200-69218800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:69211200-69219600	Weak transcription	Fetal Lung	lung
4	chr3:69211200-69219800	Weak transcription	Fetal Brain Female	brain
5	chr3:69211200-69219800	Weak transcription	Dnd41	blood
6	chr3:69211200-69226600	Weak transcription	Fetal Kidney	kidney
7	chr3:69211200-69229400	Weak transcription	Fetal Brain Male	brain
8	chr3:69211600-69220200	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:69211600-69220200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:69211600-69223400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:69211600-69230200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:69211600-69231000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:69212200-69219800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:69213200-69216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:69213400-69225400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:69214000-69218600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:69214200-69219800	Weak transcription	Placenta	Placenta
18	chr3:69214200-69226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:69214400-69216400	Weak transcription	NHEK	skin
20	chr3:69214800-69230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:69215000-69220200	Weak transcription	Brain Anterior Caudate	brain
22	chr3:69215000-69220200	Weak transcription	Fetal Intestine Large	intestine
23	chr3:69215200-69220000	Weak transcription	Brain Germinal Matrix	brain
24	chr3:69215200-69220200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:69215200-69225400	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:69215400-69218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:69215600-69216400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:69215600-69216600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr3:69215600-69216800	Enhancers	Liver	Liver
30	chr3:69215600-69219400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:69215600-69225200	Weak transcription	Fetal Intestine Small	intestine
32	chr3:69215800-69217000	Strong transcription	HSMM	muscle
33	chr3:69215800-69220600	Weak transcription	Right Ventricle	heart
34	chr3:69216000-69220000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:69216000-69220000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:69216000-69220400	Weak transcription	HMEC	breast
37	chr3:69216000-69225400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:69216000-69227200	Weak transcription	Pancreas	Pancrea

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