Variant report

Variant	rs72930083
Chromosome Location	chr2:39684582-39684583
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17023746	1.00[AMR][1000 genomes]
rs59367765	1.00[AMR][1000 genomes]
rs60080259	1.00[AMR][1000 genomes]
rs61307566	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61570293	1.00[AMR][1000 genomes]
rs72925265	1.00[AMR][1000 genomes]
rs72925273	1.00[AMR][1000 genomes]
rs72925279	1.00[AMR][1000 genomes]
rs72925287	1.00[AMR][1000 genomes]
rs72927106	1.00[AMR][1000 genomes]
rs72927112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930099	1.00[AMR][1000 genomes]
rs72931162	1.00[AMR][1000 genomes]
rs72931169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72931170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72932006	1.00[AMR][1000 genomes]
rs72932012	1.00[AMR][1000 genomes]
rs72932020	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7578373	1.00[AMR][1000 genomes]
rs7603259	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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39665200-39696000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:39665600-39685600	Weak transcription	Left Ventricle	heart
3	chr2:39665600-39694600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:39665600-39694800	Weak transcription	Pancreas	Pancrea
5	chr2:39666200-39696600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:39667000-39694600	Weak transcription	HSMMtube	muscle
7	chr2:39667200-39685200	Weak transcription	NHEK	skin
8	chr2:39667200-39694600	Weak transcription	NHLF	lung
9	chr2:39667200-39694800	Weak transcription	Brain Angular Gyrus	brain
10	chr2:39667200-39696400	Weak transcription	Fetal Heart	heart
11	chr2:39667400-39694600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:39667400-39694600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:39668200-39684800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:39668200-39685000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:39668200-39694800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:39668200-39696800	Weak transcription	Right Ventricle	heart
17	chr2:39670400-39685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:39670800-39684800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:39671200-39685000	Weak transcription	Aorta	Aorta
20	chr2:39672200-39684600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:39675000-39696400	Weak transcription	Fetal Kidney	kidney
22	chr2:39675200-39686000	Weak transcription	NHDF-Ad	bronchial
23	chr2:39675400-39694600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:39676000-39684800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:39677200-39687400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:39678000-39696800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:39678200-39694600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:39680800-39684800	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:39681000-39686200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:39681800-39685000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:39682000-39684800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:39682200-39692000	Weak transcription	Fetal Lung	lung
33	chr2:39682200-39695600	Weak transcription	Fetal Brain Male	brain
34	chr2:39682400-39686000	Weak transcription	Liver	Liver
35	chr2:39682400-39694600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:39682600-39684800	Weak transcription	Placenta	Placenta
37	chr2:39682600-39685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:39682600-39687200	Weak transcription	Adipose Nuclei	Adipose
39	chr2:39682600-39694800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:39682600-39695600	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:39682600-39695800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:39682800-39694400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:39682800-39694600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:39683000-39694600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:39683200-39684800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:39683200-39685800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:39683200-39686800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:39683200-39694400	Weak transcription	HepG2	liver
49	chr2:39683200-39694600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr2:39683200-39694600	Weak transcription	Ovary	ovary

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