Variant report

Variant	rs72902920
Chromosome Location	chr2:54061191-54061192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13402960	1.00[AMR][1000 genomes]
rs17045118	1.00[AMR][1000 genomes]
rs17045201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58301342	1.00[AMR][1000 genomes]
rs60159917	1.00[AMR][1000 genomes]
rs72901244	1.00[AMR][1000 genomes]
rs72901245	1.00[AMR][1000 genomes]
rs72901278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72902954	1.00[AMR][1000 genomes]
rs72904924	1.00[AMR][1000 genomes]
rs7559668	0.87[AFR][1000 genomes]
rs7586328	1.00[AMR][1000 genomes]
rs7586453	0.87[AFR][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	nsv834058	chr2:53900674-54072011	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54025800-54062000	Weak transcription	Right Ventricle	heart
2	chr2:54025800-54085600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:54030400-54063000	Weak transcription	Esophagus	oesophagus
4	chr2:54042800-54062200	Weak transcription	Fetal Kidney	kidney
5	chr2:54046600-54080200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:54046600-54080200	Weak transcription	NHDF-Ad	bronchial
7	chr2:54046800-54070800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:54046800-54080400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:54047000-54061400	Weak transcription	Fetal Thymus	thymus
10	chr2:54047000-54080200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:54047000-54080200	Weak transcription	A549	lung
12	chr2:54047000-54080400	Weak transcription	Gastric	stomach
13	chr2:54047000-54080400	Weak transcription	Pancreas	Pancrea
14	chr2:54047000-54080800	Weak transcription	Aorta	Aorta
15	chr2:54047200-54061800	Weak transcription	Thymus	Thymus
16	chr2:54047200-54063000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:54047200-54067600	Weak transcription	HSMM	muscle
18	chr2:54047200-54070800	Weak transcription	Placenta	Placenta
19	chr2:54047200-54077000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:54047200-54080000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:54047200-54080200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:54047200-54080200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:54047200-54080200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:54047200-54080400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:54047200-54080400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:54047200-54080800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr2:54047600-54080400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:54047600-54080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:54047800-54064200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:54048200-54065000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:54050200-54080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:54050400-54080200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:54050600-54080200	Weak transcription	Fetal Stomach	stomach
34	chr2:54051000-54080000	Weak transcription	Osteobl	bone
35	chr2:54054000-54066400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:54054000-54080400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:54054400-54063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:54054400-54080400	Weak transcription	NHLF	lung
39	chr2:54054800-54068400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:54055000-54062000	Weak transcription	Fetal Intestine Large	intestine
41	chr2:54055000-54075000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:54055200-54063200	Weak transcription	Lung	lung
43	chr2:54055200-54075000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:54055200-54080400	Weak transcription	Ovary	ovary
45	chr2:54055200-54081000	Weak transcription	Psoas Muscle	Psoas
46	chr2:54055400-54069200	Weak transcription	Fetal Brain Male	brain
47	chr2:54055400-54076400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:54055400-54080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:54056200-54080200	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:54056400-54066800	Weak transcription	Fetal Intestine Small	intestine

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