Variant report

Variant	rs72929178
Chromosome Location	chr2:39613240-39613241
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58423878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925273	0.82[AFR][1000 genomes]
rs72925279	0.82[AFR][1000 genomes]
rs72929170	1.00[AMR][1000 genomes]
rs72929174	1.00[AMR][1000 genomes]
rs72931126	1.00[AMR][1000 genomes]
rs72931142	1.00[AMR][1000 genomes]
rs72931146	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39600600-39614600	Weak transcription	Aorta	Aorta
5	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
6	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
8	chr2:39606400-39614000	Weak transcription	Right Ventricle	heart
9	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:39607200-39614600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
12	chr2:39607600-39619800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
15	chr2:39608400-39614600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:39608400-39621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:39609000-39617400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:39609200-39614000	Weak transcription	Pancreas	Pancrea
20	chr2:39609200-39614600	Weak transcription	Liver	Liver
21	chr2:39609200-39615200	Weak transcription	Gastric	stomach
22	chr2:39609200-39617200	Weak transcription	NHDF-Ad	bronchial
23	chr2:39609200-39621600	Weak transcription	Lung	lung
24	chr2:39609400-39615000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:39609400-39621200	Weak transcription	Brain Angular Gyrus	brain
26	chr2:39609400-39621200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:39609400-39621600	Weak transcription	HSMM	muscle
28	chr2:39609600-39614400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:39609600-39614600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:39609600-39617400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:39609600-39621200	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:39609600-39621400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:39609600-39621600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:39609600-39621600	Weak transcription	NH-A	brain
35	chr2:39609600-39621600	Weak transcription	Osteobl	bone
36	chr2:39609600-39626400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:39610000-39621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:39610200-39614600	Weak transcription	Fetal Lung	lung
39	chr2:39610200-39615600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:39610200-39621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:39610200-39626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:39610400-39614600	Weak transcription	Fetal Heart	heart
43	chr2:39610400-39615200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:39610400-39617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:39610600-39614000	Weak transcription	Right Atrium	heart
46	chr2:39610600-39614600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:39610800-39614600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:39610800-39615800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:39611400-39614000	Weak transcription	Left Ventricle	heart
50	chr2:39611600-39614000	Weak transcription	Ovary	ovary

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