Variant report

Variant	esv1844815
Chromosome Location	chr6:140949517-140954061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558651558	chr6:140949566-140949567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181495204	chr6:140949683-140949684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548137562	chr6:140949710-140949711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139980137	chr6:140949833-140949834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7768627	chr6:140949869-140949870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375878096	chr6:140949987-140949988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575223265	chr6:140950097-140950098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542587964	chr6:140950142-140950143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184755736	chr6:140950200-140950201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530956638	chr6:140950204-140950205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557942346	chr6:140950267-140950268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9321779	chr6:140950269-140950270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564621657	chr6:140950285-140950286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532159930	chr6:140950324-140950325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141272007	chr6:140950440-140950441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28701964	chr6:140950446-140950447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9766096	chr6:140950447-140950448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6912125	chr6:140950450-140950451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9403195	chr6:140950454-140950455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112130532	chr6:140950457-140950458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9495780	chr6:140950458-140950459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6934664	chr6:140950461-140950462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71015682	chr6:140950464-140950465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13437044	chr6:140950465-140950466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529934272	chr6:140950472-140950473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189208984	chr6:140950487-140950488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548103316	chr6:140950496-140950497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569291416	chr6:140950497-140950498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549062055	chr6:140950504-140950505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551956511	chr6:140950513-140950514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568937859	chr6:140950519-140950520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376308172	chr6:140950524-140950525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537406632	chr6:140950550-140950551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553525256	chr6:140950558-140950559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6939343	chr6:140950572-140950573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536133720	chr6:140950573-140950574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571180970	chr6:140950620-140950621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369651189	chr6:140950626-140950627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557722101	chr6:140950629-140950630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575675822	chr6:140950632-140950633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533829133	chr6:140950638-140950639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35786018	chr6:140950639-140950640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546202295	chr6:140950660-140950661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564382907	chr6:140950661-140950662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573276853	chr6:140950669-140950670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540415546	chr6:140950683-140950684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559096874	chr6:140950716-140950717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529872719	chr6:140950745-140950746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548045932	chr6:140950750-140950751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146658964	chr6:140950761-140950762	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
Hodgkin''s lymphoma	18641027	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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140948600-140991200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140949000-140957400	Weak transcription	Right Atrium	heart

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