Variant report

Variant	esv2020715
Chromosome Location	chr6:167341933-167341934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 88 )

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	rs79553216	chr6:167341933-167341934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199752784	chr6:167341934-167341935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167318400-167343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167318600-167342400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:167321800-167342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr6:167332800-167342400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:167334000-167343600	Weak transcription	Fetal Brain Male	brain
6	chr6:167335400-167343800	Weak transcription	Right Atrium	heart
7	chr6:167335600-167346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:167336600-167342200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:167337200-167342400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:167337400-167343000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:167337600-167342200	Weak transcription	Colonic Mucosa	Colon
12	chr6:167337600-167350000	Weak transcription	Ovary	ovary
13	chr6:167337600-167363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:167338200-167356000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:167338400-167342000	Weak transcription	Brain Anterior Caudate	brain
16	chr6:167338800-167342400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:167339000-167342000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:167339000-167343800	Strong transcription	GM12878-XiMat	blood
19	chr6:167339200-167342200	Weak transcription	Fetal Intestine Large	intestine
20	chr6:167339200-167342400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:167339200-167344000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:167339200-167348400	Strong transcription	Primary T cells from cord blood	blood
23	chr6:167339400-167343800	Weak transcription	Brain Angular Gyrus	brain
24	chr6:167339800-167342000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:167340000-167358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:167340000-167363000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:167340000-167363000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:167340200-167342400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:167340200-167342400	Strong transcription	Fetal Stomach	stomach
30	chr6:167340200-167342600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr6:167340200-167342800	Strong transcription	Fetal Thymus	thymus
32	chr6:167340200-167343800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:167340200-167344200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:167340200-167344800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:167340200-167349800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr6:167340200-167354600	Strong transcription	Fetal Intestine Small	intestine
37	chr6:167340200-167362800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:167340400-167342200	Enhancers	Fetal Muscle Trunk	muscle
39	chr6:167340400-167342400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:167340400-167342600	Strong transcription	Primary B cells from cord blood	blood
41	chr6:167340400-167343400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr6:167340400-167343800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:167340400-167344600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr6:167340400-167357200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:167340400-167363000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:167340600-167342200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:167340600-167342200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:167340600-167342400	Weak transcription	Esophagus	oesophagus
49	chr6:167340600-167342800	Weak transcription	Brain Germinal Matrix	brain
50	chr6:167340600-167343800	Strong transcription	Rectal Mucosa Donor 29	rectum

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