Variant report

Variant	esv3448955
Chromosome Location	chr6:150374970-150376762
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	chr6:150370900..150376205-chr6:150377396..150379934,4	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531639315	chr6:150374983-150374984	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78082748	chr6:150375404-150375405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76936133	chr6:150375408-150375409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs547658775	chr6:150375435-150375436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs4870250	chr6:150375436-150375437	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12660117	chr6:150375440-150375441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549071741	chr6:150375449-150375450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs569253686	chr6:150375474-150375475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537879339	chr6:150375483-150375484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs558411692	chr6:150375486-150375487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs74421193	chr6:150375512-150375513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534125383	chr6:150375557-150375558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114202977	chr6:150375572-150375573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs573362498	chr6:150375573-150375574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs77145915	chr6:150375576-150375577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181279838	chr6:150375599-150375600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371683743	chr6:150375605-150375606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs185795729	chr6:150375606-150375607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs138819088	chr6:150375700-150375701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs538661689	chr6:150375738-150375739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs565175147	chr6:150375775-150375776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527585721	chr6:150375808-150375809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs142778016	chr6:150375819-150375820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561078962	chr6:150375834-150375835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12661709	chr6:150375846-150375847	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549433740	chr6:150375882-150375883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs55949684	chr6:150375909-150375910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565788105	chr6:150375954-150375955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs78649543	chr6:150375970-150375971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs534472275	chr6:150375987-150375988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571564337	chr6:150375996-150375997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150746253	chr6:150376007-150376008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139072341	chr6:150376058-150376059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58308254	chr6:150376062-150376063	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192036749	chr6:150376070-150376071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58275143	chr6:150376142-150376143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs75917044	chr6:150376189-150376190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544942435	chr6:150376192-150376193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74984400	chr6:150376221-150376222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556043412	chr6:150376223-150376224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369769972	chr6:150376247-150376248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540493410	chr6:150376249-150376250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372891292	chr6:150376250-150376251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561193286	chr6:150376252-150376253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182090349	chr6:150376253-150376254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373928062	chr6:150376266-150376267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143858996	chr6:150376285-150376286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562993338	chr6:150376286-150376287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531717870	chr6:150376306-150376307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11155703	chr6:150376318-150376319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
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
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150374400-150375000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr6:150374600-150375000	Enhancers	Pancreas	Pancrea
3	chr6:150375400-150376000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:150376000-150388800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links