Variant report

Variant	nsv970145
Chromosome Location	chr6:81079495-81091148
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	EP300	chr6:81087598-81087640	K562	blood:	n/a	n/a
2	GATA3	chr6:81086494-81086680	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr6:81081898-81082358	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr6:81081930-81082376	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr6:81088569-81089025	SK-N-SH	brain:	n/a	n/a
6	IRF1	chr6:81082983-81083053	K562	blood:	n/a	n/a
7	MAFF	chr6:81091126-81091326	HepG2	liver:	n/a	n/a
8	MAFK	chr6:81091092-81091399	HepG2	liver:	n/a	chr6:81091249-81091266
9	MAFK	chr6:81091143-81091328	IMR90	lung:	n/a	chr6:81091249-81091266
10	MAFK	chr6:81091138-81091359	HepG2	liver:	n/a	chr6:81091249-81091266
11	POLR2A	chr6:81087850-81088024	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr6:81080311-81080340	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:81082868-81082975	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:81088478-81088596	MCF10A-Er-Src	breast:	n/a	n/a
15	POU2F2	chr6:81083961-81084322	GM12878	blood:	n/a	n/a
16	STAT3	chr6:81079514-81079666	MCF10A-Er-Src	breast:	n/a	n/a
17	ZC3H11A	chr6:81086449-81086461	K562	blood:	n/a	n/a
18	ZNF384	chr6:81090462-81090503	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:81073810..81075490-chr6:81078179..81079720,2	K562	blood:

Variant related genes	Relation type
RPL17P25	TF binding region

Extended variants
information (count: 464 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187840066	chr6:81079495-81079496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533663355	chr6:81079511-81079512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552282828	chr6:81079529-81079530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573761482	chr6:81079537-81079538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542619188	chr6:81079550-81079551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114694632	chr6:81079559-81079560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527634806	chr6:81079629-81079630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs66485243	chr6:81079650-81079651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs67074626	chr6:81079653-81079654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201994851	chr6:81079654-81079655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551281088	chr6:81079691-81079692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369440938	chr6:81079701-81079702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150131690	chr6:81079706-81079707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9343988	chr6:81079744-81079745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200647511	chr6:81079788-81079789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549682209	chr6:81079803-81079804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377127623	chr6:81079820-81079821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77379326	chr6:81079841-81079842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193143109	chr6:81079843-81079844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35537109	chr6:81079858-81079859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372149337	chr6:81079882-81079883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183665148	chr6:81079896-81079897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575537650	chr6:81079923-81079924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535050545	chr6:81079950-81079951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138652177	chr6:81079957-81079958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73751623	chr6:81079980-81079981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188391830	chr6:81079998-81079999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76090262	chr6:81080012-81080013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573797878	chr6:81080037-81080038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536342622	chr6:81080050-81080051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77569970	chr6:81080090-81080091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573174947	chr6:81080117-81080118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540995277	chr6:81080122-81080123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192833672	chr6:81080151-81080152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2050921	chr6:81080172-81080173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374903244	chr6:81080212-81080213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146272263	chr6:81080237-81080238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574563018	chr6:81080254-81080255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137906635	chr6:81080311-81080312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116191729	chr6:81080323-81080324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549092910	chr6:81080412-81080413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150654981	chr6:81080479-81080480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559123167	chr6:81080493-81080494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369792641	chr6:81080494-81080495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58659597	chr6:81080504-81080505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573223934	chr6:81080508-81080509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571915390	chr6:81080513-81080514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112528116	chr6:81080525-81080526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201335240	chr6:81080526-81080527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71565089	chr6:81080527-81080528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Acute lymphoblastic leukemia	21098271	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	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
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81029400-81079600	Weak transcription	HSMM	muscle
2	chr6:81069200-81079800	Weak transcription	Pancreas	Pancrea
3	chr6:81078600-81105800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:81083400-81083800	Weak transcription	Pancreas	Pancrea
5	chr6:81084000-81084400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr6:81084200-81101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:81084400-81103200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:81085800-81086200	Enhancers	Spleen	Spleen

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