Variant report

Variant	esv3367098
Chromosome Location	chr6:150823209-150825207
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	chr6:150820645..150822727-chr6:150824228..150825998,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186198488	chr6:150824413-150824414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539127713	chr6:150824475-150824476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35816511	chr6:150824505-150824506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34237215	chr6:150824517-150824518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34617153	chr6:150824522-150824523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9398010	chr6:150824598-150824599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552973044	chr6:150824610-150824611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555749651	chr6:150824626-150824627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191394115	chr6:150824651-150824652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183054485	chr6:150824652-150824653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557893959	chr6:150824655-150824656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577812546	chr6:150824661-150824662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs137882864	chr6:150824669-150824670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9372055	chr6:150824762-150824763	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573525371	chr6:150824775-150824776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73002902	chr6:150824779-150824780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187297281	chr6:150824782-150824783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555490244	chr6:150824790-150824791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575843573	chr6:150824926-150824927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540056906	chr6:150824931-150824932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556595157	chr6:150824932-150824933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73605181	chr6:150824958-150824959	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs149463656	chr6:150824965-150824966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34781801	chr6:150824994-150824995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs546712230	chr6:150824998-150824999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560550544	chr6:150825004-150825005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529240851	chr6:150825053-150825054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191028274	chr6:150825059-150825060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143929521	chr6:150825073-150825074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538479049	chr6:150825074-150825075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183126741	chr6:150825083-150825084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12213826	chr6:150825092-150825093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564326486	chr6:150825124-150825125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533905275	chr6:150825161-150825162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148640979	chr6:150825164-150825165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Follicular lymphoma	20505157	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150824400-150824600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:150824400-150824800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr6:150824800-150825000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:150825000-150830800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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