Variant report

Variant	rs371772089
Chromosome Location	chr12:56668541-56668542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:56668526-56668823	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56660814..56663303-chr12:56668023..56670170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258260	TF binding region
ENSG00000135469	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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv3444667	chr12:56667436-56668657	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56661400-56684400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:56661600-56669600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56661600-56671600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:56662000-56690000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:56662200-56678200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:56662400-56670600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:56662400-56673200	Strong transcription	HSMM	muscle
8	chr12:56662400-56677200	Strong transcription	Primary T cells from cord blood	blood
9	chr12:56662400-56680800	Strong transcription	Brain Hippocampus Middle	brain
10	chr12:56662400-56692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:56662600-56673400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:56662600-56680800	Strong transcription	Placenta	Placenta
13	chr12:56662600-56681000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr12:56662600-56681000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:56662600-56681400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:56662600-56682800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:56662600-56685400	Strong transcription	Fetal Thymus	thymus
18	chr12:56662600-56686000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:56662600-56690000	Strong transcription	Fetal Muscle Leg	muscle
20	chr12:56662800-56670200	Strong transcription	Brain Anterior Caudate	brain
21	chr12:56662800-56670600	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr12:56662800-56679600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:56662800-56680000	Strong transcription	Lung	lung
24	chr12:56662800-56680600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:56662800-56680800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:56662800-56680800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:56662800-56680800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:56662800-56680800	Strong transcription	Thymus	Thymus
29	chr12:56662800-56681000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:56662800-56681000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:56662800-56682000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:56662800-56682200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:56662800-56682800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr12:56662800-56683200	Strong transcription	Dnd41	blood
35	chr12:56662800-56686400	Strong transcription	Fetal Stomach	stomach
36	chr12:56663000-56670200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:56663000-56680600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr12:56663000-56680600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:56663000-56692600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:56663200-56668800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:56663200-56678000	Strong transcription	NHLF	lung
42	chr12:56663200-56680400	Strong transcription	Osteobl	bone
43	chr12:56663200-56680800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:56663200-56685600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:56663400-56671800	Strong transcription	Pancreas	Pancrea
46	chr12:56663400-56682200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:56663400-56687000	Strong transcription	Fetal Intestine Small	intestine
48	chr12:56663600-56670800	Strong transcription	HepG2	liver
49	chr12:56663600-56679600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:56663600-56680400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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