Variant report

Variant	rs376770334
Chromosome Location	chr12:51663016-51663017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51565300..51568760-chr12:51661642..51664290,3	K562	blood:
2	chr12:51661913..51666807-chr12:51714627..51721165,8	MCF-7	breast:
3	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
4	chr12:51440322..51443098-chr12:51662230..51665433,4	K562	blood:
5	chr12:51662477..51664063-chr12:51717292..51718857,2	MCF-7	breast:
6	chr12:51630916..51632969-chr12:51661911..51664202,4	MCF-7	breast:
7	chr12:51631526..51635212-chr12:51662486..51664929,4	MCF-7	breast:
8	chr12:51397939..51400659-chr12:51662476..51664122,2	MCF-7	breast:
9	chr12:51661897..51665217-chr12:51739188..51742261,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction
ENSG00000050426	Chromatin interaction
ENSG00000110934	Chromatin interaction
ENSG00000139610	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000183283	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3405622	chr12:51662910-51665458	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51653400-51663400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:51659600-51663200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:51661000-51665000	Active TSS	Colonic Mucosa	Colon
4	chr12:51661400-51664800	Active TSS	Esophagus	oesophagus
5	chr12:51661600-51663200	Active TSS	Rectal Smooth Muscle	rectum
6	chr12:51661600-51664600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:51661800-51664400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:51662600-51663200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:51662600-51663200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr12:51662600-51663400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:51662600-51663400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:51662600-51663400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr12:51662600-51663400	Flanking Active TSS	NHEK	skin
14	chr12:51662600-51663600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:51662600-51663600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:51662600-51663600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:51662600-51663600	Flanking Active TSS	K562	blood
18	chr12:51662600-51663600	Flanking Active TSS	NH-A	brain
19	chr12:51662600-51664600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr12:51662800-51663200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr12:51662800-51663200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:51662800-51663200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:51662800-51663200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr12:51662800-51663200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:51662800-51663200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:51662800-51663200	Enhancers	Pancreas	Pancrea
27	chr12:51662800-51663200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:51662800-51663200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr12:51662800-51663200	Enhancers	Spleen	Spleen
30	chr12:51662800-51663200	Flanking Active TSS	HMEC	breast
31	chr12:51662800-51663200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr12:51662800-51663400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:51662800-51663400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:51662800-51663400	Enhancers	Brain Hippocampus Middle	brain
35	chr12:51662800-51663400	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr12:51662800-51663400	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr12:51662800-51663400	Flanking Active TSS	Hela-S3	cervix
38	chr12:51662800-51663600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:51662800-51663600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:51662800-51663600	Flanking Active TSS	Placenta	Placenta
41	chr12:51662800-51663600	Active TSS	Stomach Mucosa	stomach
42	chr12:51662800-51663600	Flanking Active TSS	HUVEC	blood vessel
43	chr12:51662800-51663800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:51662800-51663800	Flanking Active TSS	Dnd41	blood
45	chr12:51662800-51664600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:51662800-51664600	Active TSS	Gastric	stomach
47	chr12:51662800-51664800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr12:51662800-51664800	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr12:51662800-51664800	Active TSS	Ovary	ovary
50	chr12:51662800-51665000	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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