Variant report

Variant	rs538167274
Chromosome Location	chr2:72690944-72690945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72672000-72702200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:72680800-72702000	Weak transcription	Fetal Stomach	stomach
3	chr2:72685600-72702000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:72688400-72691600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:72688800-72691600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:72689000-72691600	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr2:72689000-72692600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:72689000-72692800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:72689000-72694400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:72689200-72691200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:72689200-72691600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:72689400-72691600	ZNF genes & repeats	Liver	Liver
13	chr2:72689400-72693000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
14	chr2:72689600-72691000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:72689600-72691600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:72689600-72691600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
17	chr2:72689600-72691600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr2:72689600-72691800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr2:72689600-72692400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:72689800-72691600	ZNF genes & repeats	Fetal Brain Female	brain
21	chr2:72689800-72692600	Strong transcription	Placenta	Placenta
22	chr2:72689800-72702200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:72690000-72691600	ZNF genes & repeats	Brain Germinal Matrix	brain
24	chr2:72690000-72692400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:72690000-72702200	Weak transcription	Pancreas	Pancrea
26	chr2:72690200-72691200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr2:72690200-72691200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:72690200-72691600	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr2:72690200-72692600	Weak transcription	Stomach Mucosa	stomach
30	chr2:72690400-72691000	ZNF genes & repeats	Fetal Brain Male	brain
31	chr2:72690400-72691000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
32	chr2:72690400-72691200	ZNF genes & repeats	Right Ventricle	heart
33	chr2:72690400-72691400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr2:72690400-72691400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
35	chr2:72690400-72691400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
36	chr2:72690400-72691400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
37	chr2:72690400-72691400	ZNF genes & repeats	Osteobl	bone
38	chr2:72690400-72691600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
39	chr2:72690400-72691600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:72690400-72691600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr2:72690400-72691600	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr2:72690400-72691600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
43	chr2:72690400-72691600	ZNF genes & repeats	HMEC	breast
44	chr2:72690400-72691800	ZNF genes & repeats	Brain Anterior Caudate	brain
45	chr2:72690400-72691800	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr2:72690400-72691800	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr2:72690400-72691800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:72690400-72691800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
49	chr2:72690400-72692400	ZNF genes & repeats	Ovary	ovary
50	chr2:72690400-72692600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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