Variant report

Variant	esv3437466
Chromosome Location	chr6:145226059-145230557
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	chr6:145219914..145222376-chr6:145224376..145227096,2	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568844367	chr6:145226103-145226104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9373434	chr6:145226120-145226121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551306558	chr6:145226140-145226141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180857731	chr6:145226194-145226195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574771179	chr6:145226206-145226207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375064622	chr6:145226241-145226242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533644845	chr6:145226337-145226338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61137314	chr6:145226401-145226402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146651792	chr6:145226495-145226496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371611094	chr6:145226503-145226504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537876203	chr6:145226541-145226542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557654799	chr6:145226617-145226618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556189360	chr6:145226627-145226628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576030041	chr6:145226669-145226670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200443278	chr6:145226712-145226713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553991095	chr6:145226721-145226722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140301678	chr6:145226734-145226735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569834673	chr6:145226775-145226776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538009350	chr6:145226815-145226816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573424250	chr6:145226858-145226859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368928461	chr6:145226910-145226911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186278632	chr6:145226951-145226952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190747725	chr6:145226961-145226962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145328106	chr6:145226967-145226968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182529219	chr6:145226990-145226991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9484923	chr6:145226991-145226992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138976571	chr6:145228000-145228001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531451719	chr6:145228003-145228004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561652635	chr6:145228042-145228043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9376875	chr6:145228132-145228133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149402287	chr6:145228147-145228148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80183255	chr6:145228160-145228161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571260029	chr6:145228202-145228203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538655820	chr6:145228224-145228225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551771044	chr6:145228228-145228229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75218173	chr6:145228272-145228273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534102873	chr6:145228277-145228278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4896762	chr6:145228302-145228303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527987587	chr6:145228303-145228304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573755101	chr6:145228347-145228348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537936384	chr6:145228348-145228349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182944377	chr6:145228425-145228426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187991376	chr6:145228432-145228433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545403030	chr6:145228512-145228513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192223764	chr6:145228570-145228571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572310116	chr6:145228579-145228580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542419095	chr6:145228620-145228621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541469436	chr6:145228652-145228653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148169373	chr6:145228694-145228695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549880022	chr6:145228718-145228719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145223400-145227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:145228000-145235600	Weak transcription	Right Atrium	heart
3	chr6:145228800-145229400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:145229000-145230400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:145229200-145229600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:145229200-145230000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:145229200-145230400	Enhancers	Adipose Nuclei	Adipose
8	chr6:145229400-145230200	Enhancers	Colon Smooth Muscle	Colon
9	chr6:145229400-145231800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:145229600-145230000	Enhancers	Rectal Smooth Muscle	rectum
11	chr6:145229600-145230000	Enhancers	Stomach Smooth Muscle	stomach
12	chr6:145229600-145230000	Enhancers	NHLF	lung
13	chr6:145229600-145232400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:145230000-145233200	Weak transcription	NHLF	lung
15	chr6:145230400-145233200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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