Variant report

Variant	esv3423236
Chromosome Location	chr6:140107359-140111957
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	chr6:140109282..140111631-chr6:140114175..140116181,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539440515	chr6:140107365-140107366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75504846	chr6:140107444-140107445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575544907	chr6:140107532-140107533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539542669	chr6:140107574-140107575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145392544	chr6:140107590-140107591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573108274	chr6:140107594-140107595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540629908	chr6:140107615-140107616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562208457	chr6:140107655-140107656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574014097	chr6:140107657-140107658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183788137	chr6:140107694-140107695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558937798	chr6:140107701-140107702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116177427	chr6:140107714-140107715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73568280	chr6:140107792-140107793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs61194136	chr6:140107821-140107822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572372916	chr6:140107825-140107826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564220394	chr6:140107833-140107834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149824300	chr6:140107865-140107866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76905797	chr6:140107874-140107875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112123357	chr6:140107925-140107926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111622449	chr6:140107970-140107971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186176178	chr6:140107978-140107979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568092827	chr6:140108052-140108053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377599360	chr6:140108061-140108062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545783410	chr6:140108068-140108069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569070136	chr6:140108090-140108091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190647589	chr6:140108137-140108138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557929284	chr6:140108171-140108172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566971226	chr6:140108172-140108173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561279518	chr6:140108238-140108239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142396444	chr6:140108266-140108267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114919595	chr6:140108272-140108273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573728810	chr6:140108303-140108304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183306142	chr6:140108305-140108306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556446027	chr6:140108348-140108349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9495581	chr6:140108387-140108388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146708822	chr6:140108406-140108407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12524168	chr6:140108458-140108459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528168976	chr6:140108490-140108491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75539232	chr6:140108491-140108492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552357667	chr6:140108492-140108493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186845401	chr6:140108493-140108494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565896960	chr6:140108506-140108507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528776413	chr6:140108525-140108526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528943453	chr6:140108546-140108547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556270501	chr6:140108578-140108579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190102725	chr6:140108636-140108637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183035228	chr6:140108675-140108676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532948723	chr6:140108769-140108770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551574274	chr6:140108874-140108875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566575853	chr6:140108967-140108968	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
Breast cancer	21785460	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 myeloid leukemia	21251322	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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140100200-140109400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:140103200-140109600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:140107000-140108400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:140107400-140109400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:140109400-140109600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:140109400-140109600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:140109600-140111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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