Variant report

Variant	esv1079929
Chromosome Location	chr6:167450848-167450856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167446559..167451164-chr6:167453044..167456262,4	K562	blood:
2	chr6:167442856..167445565-chr6:167449588..167451484,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs68104683	chr6:167450849-167450850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76002095	chr6:167450850-167450851	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72079749	chr6:167450851-167450852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2345750	chr6:167450852-167450853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2345751	chr6:167450853-167450854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167413600-167452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:167415400-167454000	Strong transcription	Fetal Thymus	thymus
3	chr6:167415400-167456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:167417200-167455400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:167417600-167454800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:167417800-167455200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:167423000-167457600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:167423400-167452200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr6:167425600-167453000	Weak transcription	Brain Substantia Nigra	brain
10	chr6:167434800-167452000	Strong transcription	Primary T cells from cord blood	blood
11	chr6:167435800-167452200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:167437400-167454200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:167438000-167456200	Strong transcription	Adipose Nuclei	Adipose
14	chr6:167439200-167454000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:167439600-167453200	Strong transcription	Fetal Intestine Small	intestine
16	chr6:167440400-167459400	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:167441000-167461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:167441200-167454200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr6:167441200-167456600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:167441400-167455400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:167441400-167456200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:167441400-167473400	Weak transcription	Psoas Muscle	Psoas
23	chr6:167441600-167452200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:167441600-167454200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:167441600-167454600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:167441600-167455600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:167441800-167456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:167442000-167451200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:167443400-167451400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr6:167443600-167453600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:167443800-167453400	Weak transcription	A549	lung
32	chr6:167444800-167456200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:167445200-167451600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:167445200-167452400	Strong transcription	K562	blood
35	chr6:167445600-167460200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:167446600-167451600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:167446800-167451800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr6:167446800-167452000	Strong transcription	Dnd41	blood
39	chr6:167447000-167451600	Strong transcription	HSMM	muscle
40	chr6:167447000-167453000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:167447200-167451800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr6:167447200-167452800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:167447200-167454000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr6:167447200-167456200	Strong transcription	HepG2	liver
45	chr6:167447400-167451200	Strong transcription	Placenta	Placenta
46	chr6:167447400-167451400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr6:167447400-167451600	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:167447400-167451800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:167447400-167454000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:167447400-167455200	Strong transcription	Liver	Liver

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