Variant report

Variant	rs367612963
Chromosome Location	chr2:99552033-99552034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:99523789..99526225-chr2:99550557..99552954,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196872	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv874697	chr2:99520608-99558970	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3339215	chr2:99550420-99554818	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3412425	chr2:99551545-99553993	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99549400-99553800	Active TSS	Brain Anterior Caudate	brain
2	chr2:99550000-99553800	Active TSS	Brain Angular Gyrus	brain
3	chr2:99550800-99553200	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr2:99551200-99553800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:99551200-99554000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:99551400-99552200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr2:99551400-99552200	Flanking Active TSS	HMEC	breast
8	chr2:99551400-99553800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
9	chr2:99551600-99552200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:99551600-99552200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
11	chr2:99551600-99552200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
12	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
13	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
14	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
15	chr2:99551600-99552200	Flanking Bivalent TSS/Enh	NHEK	skin
16	chr2:99551600-99552800	Bivalent/Poised TSS	Right Ventricle	heart
17	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr2:99551800-99552200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:99551800-99552200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:99551800-99552200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
26	chr2:99551800-99552200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr2:99551800-99552200	Bivalent Enhancer	Fetal Heart	heart
28	chr2:99551800-99552200	Bivalent Enhancer	Fetal Intestine Small	intestine
29	chr2:99551800-99552200	Bivalent Enhancer	Fetal Lung	lung
30	chr2:99551800-99553000	Bivalent/Poised TSS	HUVEC	blood vessel
31	chr2:99551800-99553200	Active TSS	Ovary	ovary
32	chr2:99551800-99553600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:99551800-99553600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:99551800-99553800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:99551800-99553800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:99551800-99554000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:99551800-99554000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:99552000-99552200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:99552000-99552200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
40	chr2:99552000-99552200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:99552000-99552200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:99552000-99552200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:99552000-99552200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
44	chr2:99552000-99552200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
45	chr2:99552000-99552200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr2:99552000-99552200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr2:99552000-99552200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:99552000-99552200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:99552000-99552200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr2:99552000-99552200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood

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