Variant report

Variant	nsv966685
Chromosome Location	chr6:126894616-126912757
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	chr6:126903315-126903379	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr6:126897671-126897722	GM12878	blood:	n/a	n/a
3	FOS	chr6:126898240-126898522	HUVEC	blood vessel:	n/a	chr6:126898359-126898367
4	MYC	chr6:126897945-126898009	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:126897880-126897904	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:126895369-126895798	SK-N-MC	brain:	n/a	n/a
7	STAT3	chr6:126896098-126896179	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr6:126903227-126903347	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr6:126902043-126902210	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ECHDC1-4	chr6:126894502-126894642	ucscGeneNc_uc003qaq_1

Variant related genes	Relation type
RNU6-200P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 100 )

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	rs537049735	chr6:126897450-126897451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12662730	chr6:126897469-126897470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142224513	chr6:126897501-126897502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34820295	chr6:126897519-126897520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1844593	chr6:126897827-126897828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569890820	chr6:126897834-126897835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150758868	chr6:126897862-126897863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs57823858	chr6:126897864-126897865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180851389	chr6:126897935-126897936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3861455	chr6:126897969-126897970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs552769055	chr6:126897992-126897993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139156513	chr6:126898035-126898036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144034893	chr6:126898087-126898088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539605625	chr6:126898121-126898122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377153078	chr6:126898147-126898148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78018262	chr6:126898159-126898160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557321296	chr6:126898190-126898191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575877418	chr6:126898256-126898257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536533396	chr6:126898284-126898285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554760545	chr6:126898285-126898286	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21958427	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:126897400-126897600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:126897800-126898400	Enhancers	Muscle Satellite Cultured Cells	--

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