Variant report

Variant	rs561965387
Chromosome Location	chr2:179896634-179896635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875456	chr2:179775893-179896787	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875459	chr2:179839833-179896787	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv875460	chr2:179843612-179896787	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv875461	chr2:179843612-179900720	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv875462	chr2:179843612-179901443	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv875463	chr2:179843612-179909467	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv875466	chr2:179856777-179909467	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179887800-179896800	Weak transcription	Right Ventricle	heart
2	chr2:179893000-179896800	Weak transcription	Right Atrium	heart
3	chr2:179893000-179897000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:179893200-179896800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:179894200-179897000	Enhancers	Fetal Heart	heart
6	chr2:179894800-179906800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:179895000-179897000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:179895200-179897600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:179895400-179896800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:179895600-179896800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr2:179895600-179897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:179896000-179896800	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:179896000-179896800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:179896000-179897200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:179896000-179897600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr2:179896200-179896800	Weak transcription	Left Ventricle	heart
17	chr2:179896200-179897200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr2:179896200-179897400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:179896400-179897000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:179896400-179897200	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:179896400-179897200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:179896400-179897200	Enhancers	HSMM	muscle
23	chr2:179896400-179897400	Enhancers	Fetal Thymus	thymus
24	chr2:179896400-179897400	Flanking Active TSS	Dnd41	blood
25	chr2:179896400-179897600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:179896400-179897600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:179896400-179897600	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr2:179896400-179897600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr2:179896400-179897600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr2:179896600-179896800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:179896600-179896800	Active TSS	Primary T cells fromperipheralblood	blood
32	chr2:179896600-179896800	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:179896600-179896800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:179896600-179896800	Enhancers	Adipose Nuclei	Adipose
35	chr2:179896600-179896800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:179896600-179896800	Enhancers	Thymus	Thymus
37	chr2:179896600-179896800	Enhancers	GM12878-XiMat	blood
38	chr2:179896600-179896800	Enhancers	Osteobl	bone
39	chr2:179896600-179897000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr2:179896600-179897000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:179896600-179897000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:179896600-179897000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:179896600-179897000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr2:179896600-179897000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:179896600-179897400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr2:179896600-179897400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr2:179896600-179897400	Flanking Active TSS	HSMMtube	muscle
48	chr2:179896600-179897600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:179896600-179897600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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