Variant report

Variant	rs568006932
Chromosome Location	chr2:113189313-113189314
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv874871	chr2:113021811-113217630	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1801285	chr2:113113618-113200081	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv3371480	chr2:113189306-113191854	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113184400-113189600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:113188000-113189600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:113188800-113189400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:113188800-113189800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:113188800-113190000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:113188800-113190000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:113188800-113190000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:113189000-113189400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:113189000-113189400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr2:113189000-113189400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:113189000-113189400	Enhancers	Stomach Mucosa	stomach
12	chr2:113189000-113189400	Enhancers	Hela-S3	cervix
13	chr2:113189000-113189400	Enhancers	HMEC	breast
14	chr2:113189000-113189400	Active TSS	HUVEC	blood vessel
15	chr2:113189000-113189600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:113189000-113189600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:113189000-113189600	Enhancers	HepG2	liver
18	chr2:113189000-113189800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr2:113189000-113189800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:113189000-113190000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:113189000-113190400	Active TSS	Brain Angular Gyrus	brain
22	chr2:113189000-113191200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:113189000-113191200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:113189000-113191200	Active TSS	Liver	Liver
25	chr2:113189200-113189400	Enhancers	Pancreas	Pancrea
26	chr2:113189200-113189600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:113189200-113189600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr2:113189200-113189600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:113189200-113189600	Enhancers	Brain Hippocampus Middle	brain
30	chr2:113189200-113189600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr2:113189200-113189600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:113189200-113189600	Enhancers	HSMMtube	muscle
33	chr2:113189200-113189600	Weak transcription	NHEK	skin
34	chr2:113189200-113190000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:113189200-113190200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:113189200-113191200	Active TSS	Osteobl	bone

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