Variant report

Variant	esv3474281
Chromosome Location	chr6:141036280-141059727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:141041326..141043698-chr6:141051751..141054060,2	K562	blood:
2	chr6:141043491..141046275-chr6:141049561..141051082,2	MCF-7	breast:
3	chr6:141041326..141043698-chr6:141051751..141054060,2	K562	blood:
4	chr6:141043491..141046275-chr6:141049561..141051082,2	MCF-7	breast:

Extended variants
information (count: 591 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568823830	chr6:141038832-141038833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572740134	chr6:141038874-141038875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540091197	chr6:141038901-141038902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189972257	chr6:141038946-141038947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141506367	chr6:141038964-141038965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76264137	chr6:141039046-141039047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562535198	chr6:141039066-141039067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147031729	chr6:141039070-141039071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551544540	chr6:141039134-141039135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73777401	chr6:141039142-141039143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193256577	chr6:141039143-141039144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2506865	chr6:141039152-141039153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145208443	chr6:141039153-141039154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538210629	chr6:141039209-141039210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184547828	chr6:141039216-141039217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188212364	chr6:141039217-141039218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113790929	chr6:141039244-141039245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149163406	chr6:141039267-141039268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6940923	chr6:141039314-141039315	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572662771	chr6:141039337-141039338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180743846	chr6:141039355-141039356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561989109	chr6:141039365-141039366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190941101	chr6:141041801-141041802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572022785	chr6:141041820-141041821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182415189	chr6:141041895-141041896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79280073	chr6:141041896-141041897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576067969	chr6:141041935-141041936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376071697	chr6:141041948-141041949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543188399	chr6:141041950-141041951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144498853	chr6:141042056-141042057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148763396	chr6:141042082-141042083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187557265	chr6:141042096-141042097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559632223	chr6:141042104-141042105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78523603	chr6:141042116-141042117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548582617	chr6:141042122-141042123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563559711	chr6:141042129-141042130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541286300	chr6:141042132-141042133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531017186	chr6:141042138-141042139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552744066	chr6:141042139-141042140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571462842	chr6:141042153-141042154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144841856	chr6:141042200-141042201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547673507	chr6:141042229-141042230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565986863	chr6:141042277-141042278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536183468	chr6:141042357-141042358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111287762	chr6:141042383-141042384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191600927	chr6:141042464-141042465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2506863	chr6:141042471-141042472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536748554	chr6:141042475-141042476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558236391	chr6:141042478-141042479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576986336	chr6:141042479-141042480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Colorectal cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141038800-141039400	Enhancers	Ovary	ovary
2	chr6:141039000-141039200	Enhancers	Adipose Nuclei	Adipose
3	chr6:141039000-141039400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:141039200-141039400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:141041800-141042000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:141042000-141050600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:141046200-141049200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:141047400-141047600	Enhancers	NHDF-Ad	bronchial
9	chr6:141047600-141054800	Weak transcription	NHDF-Ad	bronchial
10	chr6:141049800-141051800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr6:141050200-141051200	Enhancers	Primary T cells from cord blood	blood
12	chr6:141050600-141051000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:141051000-141052600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:141051200-141051800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:141051600-141051800	Enhancers	Psoas Muscle	Psoas
16	chr6:141051800-141053000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:141052400-141053800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:141052600-141052800	Enhancers	Osteobl	bone
19	chr6:141052600-141053200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr6:141052600-141053400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:141052800-141053200	Enhancers	Rectal Smooth Muscle	rectum
22	chr6:141053000-141053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:141053200-141057600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:141053400-141057200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:141053800-141057400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:141054600-141055000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:141054800-141055200	Enhancers	NHDF-Ad	bronchial
28	chr6:141054800-141055200	Enhancers	Osteobl	bone
29	chr6:141055000-141057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:141055200-141057200	Weak transcription	Osteobl	bone
31	chr6:141055200-141057600	Weak transcription	NHDF-Ad	bronchial
32	chr6:141057200-141057800	Enhancers	Fetal Kidney	kidney
33	chr6:141057200-141058000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:141057200-141058000	Enhancers	Osteobl	bone
35	chr6:141057200-141058200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:141057400-141057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:141057400-141058200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:141057600-141057800	Enhancers	NHDF-Ad	bronchial
39	chr6:141057800-141058000	Enhancers	Pancreatic Islets	Pancreatic Islet

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