Variant report

Variant	esv3368132
Chromosome Location	chr6:142370859-142374357
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	chr6:142365543..142367464-chr6:142370102..142372383,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35760745	chr6:142370876-142370877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554637210	chr6:142370897-142370898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558781370	chr6:142370903-142370904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576131861	chr6:142370926-142370927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543411931	chr6:142370964-142370965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4896569	chr6:142370967-142370968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188945506	chr6:142370979-142370980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541658415	chr6:142371018-142371019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150716341	chr6:142371034-142371035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530246958	chr6:142371039-142371040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116726207	chr6:142371055-142371056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563411945	chr6:142371057-142371058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139411711	chr6:142371064-142371065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552110558	chr6:142371101-142371102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71550969	chr6:142371105-142371106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561289496	chr6:142371158-142371159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11968319	chr6:142371192-142371193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538552319	chr6:142371237-142371238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143418132	chr6:142371248-142371249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565718798	chr6:142371262-142371263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111625203	chr6:142371296-142371297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147158380	chr6:142371323-142371324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372727344	chr6:142371363-142371364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74443251	chr6:142371439-142371440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79241344	chr6:142371489-142371490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199597229	chr6:142371527-142371528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113039221	chr6:142371601-142371602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538030102	chr6:142371617-142371618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12660491	chr6:142371626-142371627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs371293418	chr6:142371633-142371634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71021649	chr6:142371644-142371645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs398094628	chr6:142371653-142371654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192287948	chr6:142371668-142371669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574955911	chr6:142371722-142371723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75457930	chr6:142371724-142371725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9373334	chr6:142371728-142371729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530865503	chr6:142371729-142371730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78743369	chr6:142371741-142371742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545838564	chr6:142371743-142371744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564128916	chr6:142371752-142371753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78656253	chr6:142371753-142371754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532839271	chr6:142371759-142371760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533933909	chr6:142371767-142371768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79670257	chr6:142371775-142371776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76200411	chr6:142371777-142371778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76753950	chr6:142371784-142371785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs80062916	chr6:142371786-142371787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532469343	chr6:142371794-142371795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547351260	chr6:142371805-142371806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553477728	chr6:142371810-142371811	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
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
Burkitt''s lymphoma	19759907	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142362200-142376600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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