Variant report

Variant	esv3417006
Chromosome Location	chr3:34891863-34892201
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	chr3:34888436..34891202-chr3:34891318..34893937,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553240833	chr3:34891892-34891893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370266687	chr3:34891925-34891926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577880371	chr3:34891958-34891959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538946435	chr3:34891972-34891973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146979766	chr3:34891974-34891975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556929377	chr3:34891980-34891981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576395457	chr3:34891984-34891985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543492150	chr3:34891985-34891986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199813294	chr3:34891992-34891993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144787534	chr3:34892004-34892005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200672852	chr3:34892007-34892008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62251604	chr3:34892010-34892011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62251605	chr3:34892014-34892015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62251606	chr3:34892015-34892016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72619971	chr3:34892016-34892017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533332938	chr3:34892018-34892019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561201790	chr3:34892021-34892022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200870481	chr3:34892024-34892025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202184602	chr3:34892026-34892027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576678423	chr3:34892029-34892030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563786455	chr3:34892031-34892032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530008568	chr3:34892032-34892033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549795479	chr3:34892033-34892034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567257525	chr3:34892038-34892039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534727047	chr3:34892044-34892045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569554361	chr3:34892045-34892046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181846400	chr3:34892048-34892049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115204673	chr3:34892049-34892050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142905869	chr3:34892050-34892051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571423221	chr3:34892054-34892055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534153461	chr3:34892055-34892056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372144182	chr3:34892059-34892060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58655326	chr3:34892064-34892065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150671526	chr3:34892065-34892066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575495618	chr3:34892066-34892067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187606231	chr3:34892068-34892069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536547984	chr3:34892069-34892070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144473830	chr3:34892073-34892074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555374900	chr3:34892074-34892075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189892314	chr3:34892077-34892078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556772909	chr3:34892081-34892082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541146822	chr3:34892083-34892084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114280074	chr3:34892084-34892085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116474316	chr3:34892086-34892087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545357295	chr3:34892089-34892090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201448341	chr3:34892094-34892095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71614141	chr3:34892096-34892097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201628853	chr3:34892113-34892114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545315786	chr3:34892120-34892121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62251607	chr3:34892121-34892122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Wilms tumour	17204608	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Kartagener syndrome	16639409	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:34885600-34897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:34886000-34897000	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:34888800-34892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:34891400-34896200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:34892200-34893000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:34892200-34893600	Enhancers	Dnd41	blood

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