Variant report

Variant	esv2635247
Chromosome Location	chr6:117642238-117643687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559549015	chr6:117642324-117642325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78803524	chr6:117642345-117642346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548325064	chr6:117642346-117642347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202120585	chr6:117642364-117642365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200445885	chr6:117642377-117642378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201927058	chr6:117642378-117642379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371081210	chr6:117642386-117642387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201305494	chr6:117642406-117642407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs55708202	chr6:117642418-117642419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs199927345	chr6:117642419-117642420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144955662	chr6:117642423-117642424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149066655	chr6:117642431-117642432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201816432	chr6:117642447-117642448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201309045	chr6:117642453-117642454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55687640	chr6:117642457-117642458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9489124	chr6:117642495-117642496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532632255	chr6:117642496-117642497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144529412	chr6:117642531-117642532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531342025	chr6:117642541-117642542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368278112	chr6:117642550-117642551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372314682	chr6:117642574-117642575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368010208	chr6:117642609-117642610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376331762	chr6:117642612-117642613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544114768	chr6:117642632-117642633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560744727	chr6:117642680-117642681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565310110	chr6:117642715-117642716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577310309	chr6:117642723-117642724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181363868	chr6:117642740-117642741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184944301	chr6:117642752-117642753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377078622	chr6:117642842-117642843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566703619	chr6:117642846-117642847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370493541	chr6:117642869-117642870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190147701	chr6:117642876-117642877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563125585	chr6:117642902-117642903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564759678	chr6:117642925-117642926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530741298	chr6:117642954-117642955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552049546	chr6:117642987-117642988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11451804	chr6:117642992-117642993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560510758	chr6:117642993-117642994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398048791	chr6:117643012-117643013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs202202076	chr6:117643013-117643014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147419466	chr6:117643048-117643049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531430605	chr6:117643083-117643084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534328259	chr6:117643126-117643127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576592495	chr6:117643188-117643189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148460473	chr6:117643272-117643273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535496971	chr6:117643364-117643365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555238567	chr6:117643396-117643397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111963868	chr6:117643421-117643422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs492132	chr6:117643433-117643434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:112)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117625800-117646600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:117628000-117643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:117631400-117643400	Weak transcription	HSMMtube	muscle
4	chr6:117631400-117649200	Weak transcription	HSMM	muscle
5	chr6:117639200-117643600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:117643400-117643600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:117643400-117644200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:117643400-117644600	Enhancers	HSMMtube	muscle
9	chr6:117643600-117644200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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