Variant report

Variant	esv1320493
Chromosome Location	chr12:67462647-67462648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67461965..67464455-chr12:67489883..67491932,2	MCF-7	breast:
2	chr12:67441847..67445341-chr12:67460170..67462670,3	MCF-7	breast:
3	chr12:67460777..67464522-chr12:67661841..67665703,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257083	chromatin interactions
ENSG00000111530	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529172455	chr12:67462647-67462648	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs57351839	chr12:67462648-67462649	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Cancer	20164920	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67461200-67463800	Active TSS	Fetal Kidney	kidney
2	chr12:67461400-67463600	Active TSS	Colon Smooth Muscle	Colon
3	chr12:67461400-67464000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:67461600-67462800	Bivalent Enhancer	Fetal Thymus	thymus
5	chr12:67461600-67463800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:67461600-67464000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:67461800-67463600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:67461800-67463600	Active TSS	Right Atrium	heart
9	chr12:67461800-67463800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:67461800-67464000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr12:67461800-67464200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr12:67461800-67464200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:67462000-67462800	Weak transcription	Spleen	Spleen
14	chr12:67462000-67463400	Active TSS	Colonic Mucosa	Colon
15	chr12:67462000-67463600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr12:67462000-67463600	Active TSS	Primary T cells from cord blood	blood
17	chr12:67462000-67463600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:67462000-67463600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr12:67462000-67463600	Active TSS	HMEC	breast
20	chr12:67462000-67463800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:67462000-67463800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr12:67462000-67463800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr12:67462000-67463800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr12:67462000-67463800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:67462000-67463800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:67462000-67463800	Active TSS	HSMM	muscle
27	chr12:67462000-67464000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:67462000-67464200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:67462000-67464200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:67462000-67464200	Active TSS	Brain Angular Gyrus	brain
31	chr12:67462200-67463400	Bivalent/Poised TSS	Thymus	Thymus
32	chr12:67462200-67463600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:67462200-67463600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:67462200-67463600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:67462200-67463600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:67462200-67463600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:67462200-67463600	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr12:67462200-67463600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr12:67462200-67463600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr12:67462200-67463600	Active TSS	Aorta	Aorta
41	chr12:67462200-67463600	Active TSS	Placenta	Placenta
42	chr12:67462200-67463600	Active TSS	NH-A	brain
43	chr12:67462200-67463800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr12:67462200-67463800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr12:67462200-67463800	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr12:67462200-67463800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr12:67462200-67464000	Active TSS	Brain Anterior Caudate	brain
48	chr12:67462200-67464000	Active TSS	Gastric	stomach
49	chr12:67462200-67464200	Active TSS	Rectal Smooth Muscle	rectum
50	chr12:67462400-67462800	Bivalent Enhancer	Primary B cells from cord blood	blood

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