Variant report

Variant	esv1628502
Chromosome Location	chr6:76329808-76329819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr6:76329594-76330605	PBDE	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:76311276..76313926-chr6:76328791..76332406,4	MCF-7	breast:
2	chr6:76320866..76324674-chr6:76327767..76329913,3	MCF-7	breast:
3	chr6:76325725..76327529-chr6:76327837..76330229,2	K562	blood:
4	chr6:76311042..76312955-chr6:76326997..76330794,3	MCF-7	breast:
5	chr6:76320486..76323287-chr6:76327522..76329955,3	K562	blood:

No data

Variant related genes	Relation type
SENP6	TF binding region
ENSG00000217488	chromatin interactions
ENSG00000112701	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 97 )

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	rs398002005	chr6:76329809-76329810	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs61380795	chr6:76329819-76329820	Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76313800-76331600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:76314000-76343200	Weak transcription	Fetal Kidney	kidney
3	chr6:76314400-76334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:76314400-76336800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:76318200-76334800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:76319800-76333400	Weak transcription	HMEC	breast
7	chr6:76319800-76348400	Weak transcription	NHEK	skin
8	chr6:76320200-76333200	Weak transcription	NH-A	brain
9	chr6:76320200-76351800	Weak transcription	HSMMtube	muscle
10	chr6:76320200-76391600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:76320600-76330000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:76320800-76334400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:76321200-76348400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:76321600-76331600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:76321600-76332800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:76321600-76334000	Weak transcription	HSMM	muscle
17	chr6:76321600-76339400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:76321800-76370400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:76322000-76341600	Weak transcription	NHLF	lung
20	chr6:76322600-76361000	Weak transcription	Thymus	Thymus
21	chr6:76322800-76333800	Weak transcription	Placenta	Placenta
22	chr6:76323400-76330200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:76323600-76330200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:76323800-76334000	Weak transcription	Hela-S3	cervix
25	chr6:76323800-76334200	Weak transcription	HepG2	liver
26	chr6:76324000-76331600	Weak transcription	Primary B cells from cord blood	blood
27	chr6:76324600-76330200	Weak transcription	NHDF-Ad	bronchial
28	chr6:76325000-76330000	Weak transcription	Gastric	stomach
29	chr6:76325000-76334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:76325200-76330000	Weak transcription	Stomach Mucosa	stomach
31	chr6:76325200-76330200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:76325200-76332200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:76326400-76331000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr6:76326600-76330600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:76326800-76332000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:76327000-76330000	Weak transcription	Ovary	ovary
37	chr6:76327400-76330400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:76327400-76330600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:76327400-76331000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr6:76327400-76331000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:76327600-76330200	Enhancers	K562	blood
42	chr6:76327600-76330800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:76327600-76331000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr6:76327600-76331400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr6:76327600-76333800	Enhancers	Liver	Liver
46	chr6:76328000-76334200	Weak transcription	A549	lung
47	chr6:76328200-76330400	Enhancers	GM12878-XiMat	blood
48	chr6:76328200-76330600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr6:76328200-76330600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr6:76328400-76331800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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