Variant report

Variant	rs73938306
Chromosome Location	chr2:54936333-54936334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1431973	1.00[AMR][1000 genomes]
rs1431974	1.00[AMR][1000 genomes]
rs55633042	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56196255	1.00[AMR][1000 genomes]
rs56951671	1.00[AMR][1000 genomes]
rs57406175	1.00[AMR][1000 genomes]
rs57539931	1.00[AMR][1000 genomes]
rs57926982	1.00[AMR][1000 genomes]
rs58204287	1.00[AMR][1000 genomes]
rs58924163	1.00[AMR][1000 genomes]
rs58987524	1.00[AMR][1000 genomes]
rs59061110	1.00[AMR][1000 genomes]
rs59402608	1.00[AMR][1000 genomes]
rs60293507	1.00[AMR][1000 genomes]
rs60542617	1.00[AMR][1000 genomes]
rs60611759	1.00[AMR][1000 genomes]
rs6740921	1.00[AMR][1000 genomes]
rs73934512	1.00[AMR][1000 genomes]
rs73934514	1.00[AMR][1000 genomes]
rs73934808	1.00[AMR][1000 genomes]
rs73934809	1.00[AMR][1000 genomes]
rs73937514	1.00[AMR][1000 genomes]
rs7570695	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54935400-54936400	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr2:54935400-54936600	Enhancers	Fetal Heart	heart
3	chr2:54935400-54936800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:54935400-54937000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr2:54935600-54936400	Active TSS	Fetal Intestine Small	intestine
6	chr2:54935600-54936600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
7	chr2:54935600-54936600	Flanking Active TSS	Colonic Mucosa	Colon
8	chr2:54935600-54936600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr2:54935600-54936600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
10	chr2:54935600-54936600	Active TSS	NH-A	brain
11	chr2:54935600-54936800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
13	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
14	chr2:54935600-54936800	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:54935600-54936800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr2:54935600-54936800	Active TSS	Fetal Brain Female	brain
17	chr2:54935600-54937000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:54935600-54937000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:54935600-54937600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:54935800-54936400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:54935800-54936400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr2:54935800-54936400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
23	chr2:54935800-54936400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr2:54935800-54936400	Flanking Active TSS	Fetal Lung	lung
25	chr2:54935800-54936400	Active TSS	Gastric	stomach
26	chr2:54935800-54936400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr2:54935800-54936400	Active TSS	Psoas Muscle	Psoas
28	chr2:54935800-54936400	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr2:54935800-54936400	Active TSS	Osteobl	bone
30	chr2:54935800-54936600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr2:54935800-54936600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:54935800-54936600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:54935800-54936600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:54935800-54936600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:54935800-54936600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:54935800-54936600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr2:54935800-54936600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:54935800-54936600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:54935800-54936600	Active TSS	Brain Anterior Caudate	brain
40	chr2:54935800-54936600	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr2:54935800-54936600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:54935800-54936600	Flanking Active TSS	Esophagus	oesophagus
43	chr2:54935800-54936600	Flanking Active TSS	HMEC	breast
44	chr2:54935800-54936800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:54935800-54936800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr2:54935800-54936800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr2:54935800-54936800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:54935800-54936800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:54935800-54936800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood

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