Variant report

Variant	nsv603744
Chromosome Location	chr6:74713467-74716478
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	E2F4	chr6:74714107-74714276	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr6:74715534-74715950	MCF-7	breast:	n/a	chr6:74715760-74715767
3	POLR2A	chr6:74715893-74715962	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC17A5-2	chr6:74714236-74714528	NONHSAT113584

Variant related genes	Relation type
TXNP7	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543179775	chr6:74714260-74714261	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs372008278	chr6:74714262-74714263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs9447096	chr6:74714304-74714305	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543287950	chr6:74714430-74714431	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs370628420	chr6:74714452-74714453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555179405	chr6:74714477-74714478	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs116122080	chr6:74714519-74714520	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs540744905	chr6:74714526-74714527	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs182109897	chr6:74715556-74715557	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs187808805	chr6:74715565-74715566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs550035857	chr6:74715598-74715599	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs538354544	chr6:74715654-74715655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs556356514	chr6:74715666-74715667	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574496965	chr6:74715682-74715683	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs116349713	chr6:74715700-74715701	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs369420685	chr6:74715734-74715735	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569290961	chr6:74715738-74715739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs115725469	chr6:74715760-74715761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558071343	chr6:74715778-74715779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs572795774	chr6:74715781-74715782	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs568489097	chr6:74715881-74715882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs540079605	chr6:74715895-74715896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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