Variant report

Variant	esv3338915
Chromosome Location	chr6:93632031-93636429
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	chr6:93631203..93633169-chr6:93639200..93642149,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139451347	chr6:93632072-93632073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184853744	chr6:93632094-93632095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562455619	chr6:93632108-93632109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531176799	chr6:93632125-93632126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551380668	chr6:93632184-93632185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9345303	chr6:93632295-93632296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563954475	chr6:93632362-93632363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73755217	chr6:93632391-93632392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547669005	chr6:93632437-93632438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567545236	chr6:93632450-93632451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536328235	chr6:93632463-93632464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113853199	chr6:93632469-93632470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373620959	chr6:93632504-93632505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149678551	chr6:93632525-93632526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145611663	chr6:93632566-93632567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187704387	chr6:93632591-93632592	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Prostate cancer	16573809	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
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	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93631800-93632600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:93632000-93632400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:93632000-93632400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:93632000-93632600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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