Variant report

Variant	esv1803415
Chromosome Location	chr6:86624320-86631033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567235125	chr6:86629802-86629803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180705982	chr6:86629865-86629866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149275889	chr6:86629886-86629887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571356856	chr6:86629924-86629925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185478869	chr6:86629937-86629938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34421613	chr6:86629953-86629954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397786008	chr6:86629955-86629956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397739805	chr6:86629956-86629957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377417255	chr6:86629962-86629963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553889642	chr6:86629984-86629985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575578816	chr6:86629988-86629989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188672082	chr6:86630016-86630017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181374122	chr6:86630023-86630024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538516361	chr6:86630029-86630030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554828102	chr6:86630032-86630033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576058806	chr6:86630194-86630195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543407390	chr6:86630198-86630199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144481403	chr6:86630255-86630256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556950264	chr6:86630274-86630275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544877485	chr6:86630302-86630303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560265524	chr6:86630354-86630355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527606411	chr6:86630372-86630373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10944161	chr6:86630376-86630377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs561164839	chr6:86630377-86630378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531376279	chr6:86630399-86630400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549757650	chr6:86630416-86630417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571259392	chr6:86630534-86630535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186914594	chr6:86630565-86630566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6925793	chr6:86630609-86630610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545946969	chr6:86630620-86630621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191455958	chr6:86630686-86630687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566299710	chr6:86630718-86630719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs137924332	chr6:86630721-86630722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116279089	chr6:86630736-86630737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1857965	chr6:86630776-86630777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs183747926	chr6:86630791-86630792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558474726	chr6:86630828-86630829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34622557	chr6:86630852-86630853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs1911553	chr6:86630892-86630893	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs540829058	chr6:86630894-86630895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553174929	chr6:86630895-86630896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560916702	chr6:86630896-86630897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572233409	chr6:86630983-86630984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2174772	chr6:86631033-86631034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
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
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
craniofacial dysmorphism	21918468	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86629800-86630000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:86630000-86631000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:86630600-86630800	Enhancers	Brain Anterior Caudate	brain
4	chr6:86630600-86630800	Enhancers	Fetal Lung	lung
5	chr6:86630600-86630800	Enhancers	Ovary	ovary
6	chr6:86631000-86633000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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