Variant report

Variant	rs547031964
Chromosome Location	chr2:179897013-179897014
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179894800-179906800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:179895200-179897600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:179895600-179897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:179896000-179897200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:179896000-179897600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr2:179896200-179897200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:179896200-179897400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:179896400-179897200	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr2:179896400-179897200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:179896400-179897200	Enhancers	HSMM	muscle
11	chr2:179896400-179897400	Enhancers	Fetal Thymus	thymus
12	chr2:179896400-179897400	Flanking Active TSS	Dnd41	blood
13	chr2:179896400-179897600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:179896400-179897600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:179896400-179897600	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr2:179896400-179897600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr2:179896400-179897600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr2:179896600-179897400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:179896600-179897400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:179896600-179897400	Flanking Active TSS	HSMMtube	muscle
21	chr2:179896600-179897600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:179896600-179897600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:179896800-179897200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:179896800-179897200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:179896800-179897200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:179896800-179897200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:179896800-179897200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr2:179896800-179897200	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr2:179896800-179897200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:179896800-179897200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:179896800-179897200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:179896800-179897200	Active TSS	Adipose Nuclei	Adipose
33	chr2:179896800-179897200	Active TSS	Colonic Mucosa	Colon
34	chr2:179896800-179897200	Enhancers	Fetal Muscle Leg	muscle
35	chr2:179896800-179897200	Enhancers	Fetal Stomach	stomach
36	chr2:179896800-179897200	Enhancers	Psoas Muscle	Psoas
37	chr2:179896800-179897200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:179896800-179897200	Flanking Active TSS	Right Atrium	heart
39	chr2:179896800-179897200	Flanking Active TSS	Right Ventricle	heart
40	chr2:179896800-179897200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:179896800-179897200	Flanking Active TSS	Thymus	Thymus
42	chr2:179896800-179897400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr2:179896800-179897400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:179896800-179897400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr2:179896800-179897400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:179896800-179897400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr2:179896800-179897400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr2:179896800-179897400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:179896800-179897400	Active TSS	NHDF-Ad	bronchial
50	chr2:179896800-179897600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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