Variant report

Variant	esv3397700
Chromosome Location	chr6:145903709-145906207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115379454	chr6:145903743-145903744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547956679	chr6:145903761-145903762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76631039	chr6:145903762-145903763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192630778	chr6:145903773-145903774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545674447	chr6:145903854-145903855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563965511	chr6:145903889-145903890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375074261	chr6:145903927-145903928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367998012	chr6:145903953-145903954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369081605	chr6:145904045-145904046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143798779	chr6:145904118-145904119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183451572	chr6:145904152-145904153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528956928	chr6:145904182-145904183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550324238	chr6:145904189-145904190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373373967	chr6:145904203-145904204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568855768	chr6:145904230-145904231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188037967	chr6:145904249-145904250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192455134	chr6:145904262-145904263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184717133	chr6:145904284-145904285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534914630	chr6:145904292-145904293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553482689	chr6:145904323-145904324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148168893	chr6:145904339-145904340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535908721	chr6:145904381-145904382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6570692	chr6:145904401-145904402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs201136915	chr6:145904409-145904410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76273490	chr6:145904423-145904424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545737537	chr6:145904426-145904427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564028836	chr6:145904439-145904440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534253656	chr6:145904457-145904458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200160176	chr6:145904463-145904464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540079207	chr6:145904466-145904467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561889078	chr6:145904506-145904507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189035029	chr6:145904524-145904525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550629439	chr6:145904537-145904538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562515632	chr6:145904578-145904579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532949746	chr6:145904616-145904617	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs572243520	chr6:145904637-145904638	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551357102	chr6:145904645-145904646	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs554232299	chr6:145904656-145904657	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs76788256	chr6:145904703-145904704	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546893947	chr6:145904724-145904725	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs4335004	chr6:145904764-145904765	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs535601336	chr6:145904774-145904775	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs192729512	chr6:145904861-145904862	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs575273599	chr6:145904875-145904876	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs529700546	chr6:145904907-145904908	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147175354	chr6:145904939-145904940	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs145106727	chr6:145904944-145904945	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs78244375	chr6:145904971-145904972	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573071821	chr6:145904996-145904997	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs557557020	chr6:145905073-145905074	ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145890600-145904600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:145904600-145905000	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:145904600-145905000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:145904600-145905200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:145904600-145905400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:145904600-145905600	ZNF genes & repeats	Lung	lung
7	chr6:145904800-145905000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:145904800-145905200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:145904800-145905200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:145904800-145905200	ZNF genes & repeats	Esophagus	oesophagus
11	chr6:145904800-145905200	Enhancers	HMEC	breast
12	chr6:145904800-145905600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:145904800-145905600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:145905000-145905400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:145905200-145910200	Weak transcription	Esophagus	oesophagus
16	chr6:145905600-145906000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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