Variant report

Variant	esv3349798
Chromosome Location	chr6:141008308-141033366
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	chr6:140995862..140998424-chr6:141006767..141008386,2	K562	blood:

Extended variants
information (count: 396 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569499089	chr6:141008329-141008330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184762460	chr6:141008410-141008411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551494614	chr6:141008413-141008414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147381389	chr6:141008426-141008427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187639671	chr6:141008443-141008444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202120411	chr6:141008444-141008445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553171385	chr6:141008451-141008452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527613440	chr6:141008487-141008488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530704051	chr6:141008546-141008547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192411965	chr6:141008547-141008548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557553086	chr6:141008584-141008585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575456495	chr6:141008619-141008620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545734592	chr6:141008620-141008621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563760784	chr6:141008634-141008635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572568455	chr6:141008729-141008730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539924395	chr6:141008748-141008749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561473840	chr6:141008879-141008880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529444049	chr6:141008890-141008891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550934555	chr6:141008892-141008893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375171376	chr6:141008908-141008909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200724243	chr6:141008913-141008914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563157067	chr6:141008934-141008935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371668114	chr6:141008952-141008953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368923266	chr6:141008961-141008962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370123016	chr6:141009030-141009031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377665460	chr6:141009034-141009035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201419418	chr6:141009055-141009056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374373912	chr6:141009063-141009064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201449139	chr6:141009068-141009069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199736528	chr6:141009085-141009086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12180266	chr6:141009088-141009089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375240289	chr6:141009109-141009110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375866919	chr6:141009119-141009120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199832521	chr6:141009128-141009129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200529468	chr6:141009149-141009150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374527271	chr6:141009150-141009151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201362653	chr6:141009158-141009159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369512793	chr6:141009168-141009169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62431468	chr6:141009187-141009188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376365059	chr6:141009220-141009221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533463065	chr6:141009229-141009230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200834364	chr6:141009255-141009256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201575759	chr6:141009260-141009261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370725266	chr6:141009268-141009269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551725774	chr6:141009279-141009280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566889650	chr6:141009304-141009305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199942395	chr6:141009316-141009317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374824718	chr6:141009365-141009366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113063547	chr6:141009377-141009378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373985321	chr6:141009384-141009385	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140993200-141015400	Weak transcription	Placenta	Placenta
2	chr6:141018600-141019200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr6:141029200-141030000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:141029200-141030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:141029200-141030400	Enhancers	Fetal Lung	lung
6	chr6:141029400-141029800	Enhancers	Brain Substantia Nigra	brain
7	chr6:141029400-141030000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:141029400-141030400	Enhancers	Fetal Stomach	stomach
9	chr6:141029600-141030000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:141029600-141030000	Enhancers	HSMMtube	muscle
11	chr6:141029600-141030200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:141029800-141030000	Enhancers	Fetal Heart	heart
13	chr6:141030600-141031200	Active TSS	Fetal Heart	heart
14	chr6:141032000-141033200	Enhancers	Primary B cells from cord blood	blood
15	chr6:141032600-141032800	Enhancers	GM12878-XiMat	blood

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