Variant report

Variant	nsv970163
Chromosome Location	chr6:126963994-126967239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:367)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:126966349-126966378	GM13976	blood:	n/a	n/a
2	GABPA	chr6:126964566-126964666	HepG2	liver:	n/a	n/a
3	GABPA	chr6:126964561-126964667	HepG2	liver:	n/a	n/a
4	MYC	chr6:126964625-126964756	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:126964563-126964670	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:126964576-126964682	A549	lung:	n/a	n/a
7	POLR2A	chr6:126964568-126964664	A549	lung:	n/a	n/a
8	POLR2A	chr6:126965343-126965503	MCF-7	breast:	n/a	n/a
9	POLR2A	chr6:126965252-126965362	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:126964449-126964863	A549	lung:	n/a	n/a
11	POLR2A	chr6:126965279-126965432	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:126964516-126964822	MCF-7	breast:	n/a	n/a
13	POLR2A	chr6:126964825-126964976	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:126964744-126964749	MCF-7	breast:	n/a	n/a
15	POLR2A	chr6:126965335-126965481	MCF-7	breast:	n/a	n/a
16	POLR2A	chr6:126963980-126964067	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr6:126964623-126964662	MCF-7	breast:	n/a	n/a
18	POLR2A	chr6:126964580-126964688	A549	lung:	n/a	n/a
19	POLR2A	chr6:126964621-126965129	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:126964685-126964742	MCF-7	breast:	n/a	n/a
21	POLR2A	chr6:126965320-126965454	H1-hESC	embryonic stem cell:	n/a	n/a
22	SRF	chr6:126965320-126965485	GM12878	blood:	n/a	n/a
23	TAF1	chr6:126964537-126964841	HepG2	liver:	n/a	n/a
24	TAF1	chr6:126964553-126964792	HepG2	liver:	n/a	n/a
25	USF1	chr6:126964560-126964626	GM12878	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:126964727-126964777	U87	brain:	n/a
2	chr6:126964727-126964777	U87	brain:	n/a
3	chr6:126964779-126964829	GM12878	blood:	n/a
4	chr6:126965162-126965212	HRE	kidney:	n/a
5	chr6:126964945-126964995	NB4	blood:	n/a
6	chr6:126964779-126964829	HRCEpiC	kidney:	n/a
7	chr6:126964779-126964829	SKMC	muscle:	n/a
8	chr6:126964945-126964995	IMR90	lung:	fetal
9	chr6:126964983-126965033	AG04450	lung:	fetal
10	chr6:126964499-126964549	GM12892	blood:	n/a
11	chr6:126964499-126964549	ECC-1	luminal epithelium:	n/a
12	chr6:126964727-126964777	MCF10A-Er-Src	breast:	n/a
13	chr6:126965162-126965212	GM19239	blood:	n/a
14	chr6:126964727-126964777	IMR90	lung:	fetal
15	chr6:126964779-126964829	NT2-D1	testis:	n/a
16	chr6:126964945-126964995	ovcar-3	ovarian:	n/a
17	chr6:126964983-126965033	ovcar-3	ovarian:	n/a
18	chr6:126964945-126964995	PANC-1	pancreas:	n/a
19	chr6:126964983-126965033	Caco-2	colon:	n/a
20	chr6:126964727-126964777	CMK	blood:	n/a
21	chr6:126964983-126965033	HEK293	kidney:	embryo
22	chr6:126964983-126965033	LNCaP	prostate:	n/a
23	chr6:126964983-126965033	NH-A	brain:	n/a
24	chr6:126964779-126964829	HPAEpiC	pulmonary alveolar:	n/a
25	chr6:126964499-126964549	HRCEpiC	kidney:	n/a
26	chr6:126964499-126964549	NB4	blood:	n/a
27	chr6:126965162-126965212	MCF10A-Er-Src	breast:	n/a
28	chr6:126964499-126964549	IMR90	lung:	fetal
29	chr6:126964983-126965033	HCF	heart:	n/a
30	chr6:126964499-126964549	U87	brain:	n/a
31	chr6:126964499-126964549	Hepatocyte	liver:	n/a
32	chr6:126964779-126964829	HNPCEpiC	eye:	n/a
33	chr6:126964983-126965033	AG09319	gingival:	n/a
34	chr6:126964727-126964777	HepG2	liver:	n/a
35	chr6:126964727-126964777	SK-N-SH	brain:	n/a
36	chr6:126964499-126964549	HCT-116	colon:	n/a
37	chr6:126964945-126964995	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:126964499-126964549	MCF10A-Er-Src	breast:	n/a
39	chr6:126965162-126965212	AoSMC	blood vessel:	n/a
40	chr6:126964727-126964777	AG04449	skin:	fetal
41	chr6:126965162-126965212	Hela-S3	cervix:	n/a
42	chr6:126964779-126964829	Hela-S3	cervix:	n/a
43	chr6:126964945-126964995	HCM	heart:	n/a
44	chr6:126965162-126965212	BJ	skin:	n/a
45	chr6:126964499-126964549	HRE	kidney:	n/a
46	chr6:126964945-126964995	A549	lung:	n/a
47	chr6:126964779-126964829	LNCaP	prostate:	n/a
48	chr6:126964983-126965033	PANC-1	pancreas:	n/a
49	chr6:126964727-126964777	NT2-D1	testis:	n/a
50	chr6:126964727-126964777	HMEC	breast:	n/a

No data

Variant related genes	Relation type
PRELID1P1	TF binding region
PRELID1P1	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565338024	chr6:126964014-126964015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs1538956	chr6:126964026-126964027	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs370094861	chr6:126964028-126964029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4273712	chr6:126964510-126964511	Inactive region	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
5	rs569308319	chr6:126964620-126964621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567111575	chr6:126964660-126964661	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs375610885	chr6:126964661-126964662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534363802	chr6:126964664-126964665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs4626447	chr6:126964675-126964676	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs571293367	chr6:126964678-126964679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs147915728	chr6:126964734-126964735	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs556575255	chr6:126964776-126964777	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs577694912	chr6:126964785-126964786	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs553966573	chr6:126967212-126967213	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:126967200-126967400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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