Variant report

Variant	esv15387
Chromosome Location	chr6:78879462-78899584
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	chr6:78884216..78887143-chr6:79140755..79143140,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540725087	chr6:78891036-78891037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570914761	chr6:78891219-78891220	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs1338327	chr6:78891238-78891239	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577082815	chr6:78891268-78891269	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532928330	chr6:78891286-78891287	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549744554	chr6:78891326-78891327	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186634496	chr6:78891330-78891331	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192353257	chr6:78891343-78891344	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75379942	chr6:78891390-78891391	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs183672433	chr6:78891431-78891432	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs142265175	chr6:78891456-78891457	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557931062	chr6:78891478-78891479	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573676384	chr6:78891534-78891535	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34819371	chr6:78891559-78891560	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571703899	chr6:78891567-78891568	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs537178307	chr6:78891571-78891572	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs144566518	chr6:78891599-78891600	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs111669843	chr6:78891697-78891698	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574099901	chr6:78891787-78891788	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs543316577	chr6:78891790-78891791	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553707428	chr6:78891798-78891799	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372695013	chr6:78891843-78891844	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs545577180	chr6:78891874-78891875	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs568640995	chr6:78891882-78891883	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs540837726	chr6:78891899-78891900	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201256299	chr6:78891931-78891932	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185321540	chr6:78891932-78891933	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs562907079	chr6:78892000-78892001	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549141489	chr6:78899006-78899007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117783400	chr6:78899045-78899046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535085699	chr6:78899058-78899059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181806176	chr6:78899077-78899078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112203781	chr6:78899082-78899083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551156063	chr6:78899094-78899095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138330694	chr6:78899119-78899120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375270165	chr6:78899132-78899133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9443536	chr6:78899142-78899143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185331301	chr6:78899217-78899218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574364618	chr6:78899227-78899228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114096707	chr6:78899228-78899229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553496536	chr6:78899248-78899249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573377563	chr6:78899270-78899271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541072253	chr6:78899282-78899283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9448322	chr6:78899293-78899294	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs113860017	chr6:78899303-78899304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543013674	chr6:78899325-78899326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12204806	chr6:78899326-78899327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529137739	chr6:78899379-78899380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181581901	chr6:78899440-78899441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9443537	chr6:78899456-78899457	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78891000-78891200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:78891000-78892000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:78891200-78891600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:78891600-78892000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:78892000-78892200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:78899000-78899400	Enhancers	Fetal Intestine Large	intestine
7	chr6:78899400-78899600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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