Variant report

Variant	esv3429692
Chromosome Location	chr6:164398101-164400461
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572825377	chr6:164398109-164398110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541231547	chr6:164398236-164398237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13193552	chr6:164398238-164398239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533488180	chr6:164398243-164398244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543704446	chr6:164398268-164398269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563561756	chr6:164398284-164398285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372854700	chr6:164398328-164398329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549075362	chr6:164398341-164398342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566185137	chr6:164398342-164398343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527976222	chr6:164398349-164398350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528547497	chr6:164398422-164398423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551611452	chr6:164398443-164398444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112790109	chr6:164398455-164398456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571456871	chr6:164398505-164398506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537387493	chr6:164398506-164398507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557196743	chr6:164398513-164398514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567182899	chr6:164398516-164398517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546323618	chr6:164398519-164398520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185626819	chr6:164398523-164398524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552649615	chr6:164398527-164398528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377063288	chr6:164398534-164398535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141426512	chr6:164398552-164398553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557978815	chr6:164398556-164398557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577794730	chr6:164398579-164398580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190573288	chr6:164398616-164398617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181792569	chr6:164398640-164398641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539667280	chr6:164398730-164398731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185899342	chr6:164398797-164398798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373643563	chr6:164398798-164398799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35508173	chr6:164398856-164398857	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs574223563	chr6:164398861-164398862	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs564874432	chr6:164398913-164398914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs369828234	chr6:164398950-164398951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs189919841	chr6:164398970-164398971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs181261394	chr6:164399033-164399034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565101609	chr6:164399038-164399039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530707159	chr6:164399044-164399045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550465630	chr6:164399054-164399055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567556901	chr6:164399096-164399097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150579760	chr6:164399097-164399098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570783253	chr6:164399098-164399099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139975964	chr6:164399140-164399141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116300618	chr6:164399145-164399146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538375575	chr6:164399170-164399171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184936187	chr6:164399171-164399172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71725296	chr6:164399208-164399209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs60475885	chr6:164399211-164399212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75625066	chr6:164399239-164399240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386708206	chr6:164399288-164399289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71278554	chr6:164399290-164399291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164389200-164404600	Weak transcription	Fetal Heart	heart
2	chr6:164393800-164413800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:164398800-164399000	ZNF genes & repeats	Pancreas	Pancrea
4	chr6:164399000-164405400	Weak transcription	Pancreas	Pancrea

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