Variant report

Variant	esv2509637
Chromosome Location	chr6:131325137-131325137
allele	n/a
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	JUND	chr6:131324836-131325300	H1-hESC	embryonic stem cell:	n/a	chr6:131324992-131325001
2	POLR2A	chr6:131324986-131325318	MCF10A-Er-Src	breast:	n/a	n/a
3	TEAD4	chr6:131324627-131325380	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr6:131324856-131325195	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr6:131324785-131325236	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131322621..131325440-chr6:131350090..131351837,2	K562	blood:

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 0)
Associated
traits (count: 80 )

No data

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131315800-131325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:131318800-131325800	Weak transcription	Fetal Thymus	thymus
3	chr6:131318800-131328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:131318800-131329200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:131319000-131325600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:131320400-131325200	Weak transcription	Right Ventricle	heart
7	chr6:131321000-131326600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:131321400-131325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:131321800-131327200	Enhancers	Fetal Stomach	stomach
10	chr6:131322000-131325600	Weak transcription	Stomach Mucosa	stomach
11	chr6:131322400-131325800	Weak transcription	Placenta	Placenta
12	chr6:131322400-131327000	Enhancers	Brain Substantia Nigra	brain
13	chr6:131322600-131325200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:131322600-131326600	Enhancers	Brain Hippocampus Middle	brain
15	chr6:131322600-131326800	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:131322600-131327000	Enhancers	Brain Anterior Caudate	brain
17	chr6:131322600-131327000	Enhancers	Fetal Lung	lung
18	chr6:131322600-131333200	Weak transcription	Pancreas	Pancrea
19	chr6:131323000-131325600	Enhancers	Adipose Nuclei	Adipose
20	chr6:131323200-131325200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:131323200-131325400	Enhancers	Osteobl	bone
22	chr6:131323200-131326000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:131323400-131325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:131323600-131325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:131323600-131325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:131323600-131325600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:131323600-131325600	Weak transcription	Spleen	Spleen
28	chr6:131323600-131326600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:131323600-131327000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:131323600-131327800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:131323600-131328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:131323800-131325800	Weak transcription	NHDF-Ad	bronchial
33	chr6:131323800-131326000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:131323800-131327000	Enhancers	NHLF	lung
35	chr6:131323800-131328000	Weak transcription	A549	lung
36	chr6:131323800-131328200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:131324000-131325400	Weak transcription	HMEC	breast
38	chr6:131324000-131334200	Weak transcription	Small Intestine	intestine
39	chr6:131324200-131326800	Enhancers	Fetal Heart	heart
40	chr6:131324400-131325800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:131324400-131325800	Enhancers	HSMM	muscle
42	chr6:131324400-131326000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:131324400-131326800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr6:131324600-131326000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:131324600-131326000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr6:131324600-131326000	Enhancers	Fetal Kidney	kidney
47	chr6:131324600-131326000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr6:131324600-131326400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:131324600-131327200	Enhancers	Fetal Muscle Leg	muscle
50	chr6:131324600-131327400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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