Variant report

Variant	esv3341615
Chromosome Location	chr6:141998959-142000857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:141998840..141999399-chr6:142365802..142366506,2	MCF-7	breast:
2	chr6:141998651..141999214-chr6:142310161..142310947,2	MCF-7	breast:
3	chr6:141998709..141999469-chr6:142433501..142434128,2	K562	blood:
4	chr6:141998374..141999368-chr6:142433353..142434249,2	MCF-7	breast:
5	chr6:141998460..141999421-chr6:142110108..142110780,4	MCF-7	breast:
6	chr6:141998099..141999007-chr6:142433461..142433965,2	MCF-7	breast:

Extended variants
information (count: 85 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186427965	chr6:141998976-141998977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73777239	chr6:141998980-141998981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574534720	chr6:141998981-141998982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542054947	chr6:141999022-141999023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138498970	chr6:141999023-141999024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77267087	chr6:141999045-141999046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371461312	chr6:141999051-141999052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372814076	chr6:141999060-141999061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535296015	chr6:141999105-141999106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557018682	chr6:141999188-141999189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146050152	chr6:141999199-141999200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545801715	chr6:141999238-141999239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557756764	chr6:141999293-141999294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572889423	chr6:141999310-141999311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369896945	chr6:141999345-141999346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540885667	chr6:141999353-141999354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201270100	chr6:141999373-141999374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375389665	chr6:141999377-141999378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542760424	chr6:141999419-141999420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552547022	chr6:141999428-141999429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529022227	chr6:141999430-141999431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562681253	chr6:141999473-141999474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9496119	chr6:141999484-141999485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531806517	chr6:141999502-141999503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569172890	chr6:141999518-141999519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533278376	chr6:141999524-141999525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140035880	chr6:141999556-141999557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566495738	chr6:141999561-141999562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527689124	chr6:141999598-141999599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546827997	chr6:141999688-141999689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568313540	chr6:141999706-141999707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190008821	chr6:141999713-141999714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142301388	chr6:141999722-141999723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549401267	chr6:141999728-141999729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369203368	chr6:141999730-141999731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368193611	chr6:141999735-141999736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370511460	chr6:141999744-141999745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375264124	chr6:141999746-141999747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367702461	chr6:141999748-141999749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373911392	chr6:141999750-141999751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58100383	chr6:141999759-141999760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367800017	chr6:141999765-141999766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371246578	chr6:141999766-141999767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375581757	chr6:141999767-141999768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368579657	chr6:141999769-141999770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372726379	chr6:141999771-141999772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376839058	chr6:141999772-141999773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374379732	chr6:141999773-141999774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6916673	chr6:141999775-141999776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57852105	chr6:141999781-141999782	Weak transcription	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141997600-141999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:141999000-141999200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:141999000-141999200	Enhancers	Adipose Nuclei	Adipose
4	chr6:141999000-141999200	Enhancers	NHDF-Ad	bronchial
5	chr6:141999000-141999400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:141999200-142006000	Weak transcription	NHDF-Ad	bronchial

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