Variant report

Variant	esv2517290
Chromosome Location	chr6:142841836-142843294
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73586310	chr6:142841856-142841857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561593121	chr6:142841864-142841865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148908046	chr6:142841892-142841893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368451955	chr6:142841932-142841933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547210928	chr6:142841934-142841935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564913436	chr6:142841957-142841958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529901228	chr6:142841991-142841992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183721239	chr6:142841992-142841993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565657975	chr6:142842014-142842015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529860105	chr6:142842022-142842023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188341386	chr6:142842037-142842038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546396571	chr6:142842043-142842044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181833368	chr6:142842044-142842045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541327960	chr6:142842045-142842046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528430572	chr6:142842052-142842053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73586311	chr6:142842063-142842064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs185696064	chr6:142842088-142842089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554211377	chr6:142842089-142842090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116917427	chr6:142842170-142842171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374052720	chr6:142842189-142842190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190549938	chr6:142842194-142842195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143432903	chr6:142842205-142842206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576798580	chr6:142842228-142842229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544159978	chr6:142842235-142842236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115741114	chr6:142842238-142842239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs537078595	chr6:142842260-142842261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562291410	chr6:142842284-142842285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9496407	chr6:142842322-142842323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs181865364	chr6:142842338-142842339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186894956	chr6:142842341-142842342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs262120	chr6:142842360-142842361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551691232	chr6:142842373-142842374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530701899	chr6:142842399-142842400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374773111	chr6:142842438-142842439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189787757	chr6:142842470-142842471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570435555	chr6:142842522-142842523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181255900	chr6:142842530-142842531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547484252	chr6:142842545-142842546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566162198	chr6:142842551-142842552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184977345	chr6:142842567-142842568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555127965	chr6:142842582-142842583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576737434	chr6:142842583-142842584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73586370	chr6:142842585-142842586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs559257881	chr6:142842617-142842618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189737585	chr6:142842625-142842626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183101952	chr6:142842626-142842627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559135444	chr6:142842726-142842727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574468988	chr6:142842760-142842761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541597476	chr6:142842768-142842769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187339133	chr6:142842785-142842786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142839600-142843400	Weak transcription	Fetal Lung	lung
2	chr6:142840000-142842600	Weak transcription	Primary T cells from cord blood	blood
3	chr6:142840000-142843400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:142840400-142843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:142840600-142843200	Weak transcription	Esophagus	oesophagus
6	chr6:142840600-142846800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:142842600-142843600	Enhancers	Primary T cells from cord blood	blood
8	chr6:142843200-142843400	Enhancers	Lung	lung
9	chr6:142843200-142844000	Enhancers	Esophagus	oesophagus
10	chr6:142843200-142846000	Enhancers	Cortex derived primary cultured neurospheres	brain

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