Variant report

Variant	rs73925138
Chromosome Location	chr2:30584703-30584704
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4356698	1.00[AMR][1000 genomes]
rs55816765	1.00[AMR][1000 genomes]
rs55987207	1.00[AMR][1000 genomes]
rs57076287	1.00[AMR][1000 genomes]
rs57128291	1.00[AMR][1000 genomes]
rs58020576	1.00[AMR][1000 genomes]
rs58426874	1.00[AMR][1000 genomes]
rs59728852	1.00[AMR][1000 genomes]
rs60883034	1.00[AMR][1000 genomes]
rs60893697	1.00[AMR][1000 genomes]
rs61045659	1.00[AMR][1000 genomes]
rs73925136	1.00[AMR][1000 genomes]
rs73925142	1.00[AMR][1000 genomes]
rs73925144	1.00[AMR][1000 genomes]
rs73925145	1.00[AMR][1000 genomes]
rs73925146	1.00[AMR][1000 genomes]
rs73925147	1.00[AMR][1000 genomes]
rs73925148	1.00[AMR][1000 genomes]
rs73925149	1.00[AMR][1000 genomes]
rs73925154	1.00[AMR][1000 genomes]
rs73925159	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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30570200-30584800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:30581200-30586000	Enhancers	Fetal Thymus	thymus
3	chr2:30581400-30586000	Enhancers	Placenta	Placenta
4	chr2:30581400-30586200	Enhancers	Left Ventricle	heart
5	chr2:30581400-30586200	Enhancers	Right Ventricle	heart
6	chr2:30581600-30586400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:30581600-30586600	Enhancers	Primary T cells from cord blood	blood
8	chr2:30581800-30586200	Enhancers	Lung	lung
9	chr2:30582000-30586200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:30582000-30586400	Enhancers	Adipose Nuclei	Adipose
11	chr2:30582000-30586400	Enhancers	Fetal Lung	lung
12	chr2:30582000-30591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:30582400-30585600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:30582400-30586200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:30582400-30586200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr2:30582400-30586200	Enhancers	Spleen	Spleen
17	chr2:30582400-30589600	Enhancers	Fetal Heart	heart
18	chr2:30582600-30586000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr2:30582600-30586000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:30582600-30586200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:30582800-30585600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:30583000-30584800	Weak transcription	HSMMtube	muscle
23	chr2:30583000-30585400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:30583000-30585600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr2:30583200-30585200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:30583200-30585400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:30583200-30585400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr2:30583200-30585400	Enhancers	Stomach Smooth Muscle	stomach
29	chr2:30583200-30586000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:30583200-30586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:30583200-30589400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:30583200-30591400	Weak transcription	Gastric	stomach
33	chr2:30583400-30585200	Weak transcription	Fetal Stomach	stomach
34	chr2:30583600-30585600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:30583800-30584800	Weak transcription	Pancreas	Pancrea
36	chr2:30583800-30585200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:30583800-30585600	Enhancers	Primary B cells from peripheral blood	blood
38	chr2:30583800-30585600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:30583800-30586000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:30584000-30585000	Weak transcription	Fetal Kidney	kidney
41	chr2:30584000-30585600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:30584000-30586200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:30584000-30586200	Enhancers	Right Atrium	heart
44	chr2:30584000-30586400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:30584200-30585000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:30584200-30585000	Enhancers	Primary B cells from cord blood	blood
47	chr2:30584200-30585400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:30584200-30585600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:30584200-30585600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:30584200-30585600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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