Variant report

Variant	esv3398932
Chromosome Location	chr6:100831259-100831717
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	chr6:100822946..100825730-chr6:100831670..100834406,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185597789	chr6:100831262-100831263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561136294	chr6:100831314-100831315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190061379	chr6:100831349-100831350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569039275	chr6:100831421-100831422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202057976	chr6:100831422-100831423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540387945	chr6:100831430-100831431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79065329	chr6:100831433-100831434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527673053	chr6:100831459-100831460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532280946	chr6:100831460-100831461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79591930	chr6:100831474-100831475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562533241	chr6:100831499-100831500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529630168	chr6:100831559-100831560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144758585	chr6:100831560-100831561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9403728	chr6:100831568-100831569	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534130618	chr6:100831632-100831633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533417247	chr6:100831645-100831646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372088989	chr6:100831654-100831655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192948268	chr6:100831655-100831656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
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
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	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	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:100826600-100831600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:100826800-100839000	Weak transcription	HSMM	muscle
3	chr6:100828400-100832000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:100831000-100837200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:100831000-100838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:100831200-100837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:100831200-100874000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:100831600-100838000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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