Variant report

Variant	nsv970150
Chromosome Location	chr6:85997336-85998751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:85998490-85998620	MCF-7	breast:	n/a	n/a
2	CTCF	chr6:85998496-85998618	MCF-7	breast:	n/a	n/a
3	CTCF	chr6:85998479-85998620	MCF-7	breast:	n/a	n/a
4	CTCF	chr6:85998472-85998625	MCF-7	breast:	n/a	n/a
5	CTCF	chr6:85998505-85998626	ProgFib	skin:	n/a	n/a
6	CTCF	chr6:85998555-85998613	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr6:85998491-85998618	MCF-7	breast:	n/a	n/a
8	CTCF	chr6:85998580-85998609	HepG2	liver:	n/a	n/a
9	CTCF	chr6:85998512-85998617	K562	blood:	n/a	n/a
10	POLR2A	chr6:85998483-85998578	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
KRT18P64	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553757657	chr6:85997400-85997401	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565521765	chr6:85997431-85997432	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181384821	chr6:85997469-85997470	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs12192916	chr6:85997500-85997501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs576367157	chr6:85997528-85997529	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs543684712	chr6:85997530-85997531	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558783753	chr6:85997544-85997545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112539281	chr6:85997551-85997552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541152403	chr6:85997595-85997596	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186069367	chr6:85997628-85997629	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370650689	chr6:85997641-85997642	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542160211	chr6:85997642-85997643	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573951854	chr6:85997645-85997646	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs374586414	chr6:85997702-85997703	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114569447	chr6:85997735-85997736	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs117424580	chr6:85997737-85997738	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs72918351	chr6:85997747-85997748	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs189266629	chr6:85997761-85997762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs368600529	chr6:85997790-85997791	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532266278	chr6:85997794-85997795	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:85997400-85997800	Active TSS	Spleen	Spleen

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