Variant report

Variant	rs146461247
Chromosome Location	chr2:72691754-72691755
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72691074..72693045-chr2:72701878..72703474,2	MCF-7	breast:

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:75 , 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	chr2:72689000-72692600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:72689000-72692800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:72689000-72694400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:72689400-72693000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr2:72689600-72691800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr2:72689600-72692400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:72689800-72692600	Strong transcription	Placenta	Placenta
11	chr2:72689800-72702200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:72690000-72692400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:72690000-72702200	Weak transcription	Pancreas	Pancrea
14	chr2:72690200-72692600	Weak transcription	Stomach Mucosa	stomach
15	chr2:72690400-72691800	ZNF genes & repeats	Brain Anterior Caudate	brain
16	chr2:72690400-72691800	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr2:72690400-72691800	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr2:72690400-72691800	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:72690400-72691800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
20	chr2:72690400-72692400	ZNF genes & repeats	Ovary	ovary
21	chr2:72690400-72692600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:72690400-72702200	Weak transcription	Fetal Kidney	kidney
23	chr2:72690600-72691800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:72690600-72691800	Strong transcription	Fetal Intestine Large	intestine
25	chr2:72690600-72692400	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr2:72690600-72692600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
27	chr2:72690600-72693000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:72690800-72691800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:72690800-72692600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:72690800-72695800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:72691000-72692400	Strong transcription	Fetal Brain Male	brain
32	chr2:72691000-72692400	ZNF genes & repeats	Small Intestine	intestine
33	chr2:72691000-72692600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:72691200-72691800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:72691200-72692400	Strong transcription	Fetal Lung	lung
36	chr2:72691200-72693200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr2:72691200-72694200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:72691200-72697600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:72691200-72702000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:72691200-72702000	Weak transcription	Right Ventricle	heart
41	chr2:72691400-72692400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr2:72691400-72692600	Strong transcription	Left Ventricle	heart
43	chr2:72691400-72693200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:72691400-72693800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:72691400-72694400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:72691400-72702400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:72691400-72712600	Weak transcription	Osteobl	bone
48	chr2:72691400-72724200	Weak transcription	Psoas Muscle	Psoas
49	chr2:72691400-72726400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:72691600-72692600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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