Variant report

Variant	nsv946425
Chromosome Location	chr1:166720534-166732142
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	chr1:166725597-166725622	GM20000	blood:	n/a	n/a
2	CTCF	chr1:166726077-166726106	Lung_OC	lung:	n/a	n/a
3	CTCF	chr1:166723249-166723355	GM13976	blood:	n/a	n/a
4	CTCF	chr1:166725025-166725053	LNCaP	prostate:	n/a	n/a
5	CTCF	chr1:166726380-166726530	NHEK	skin:	n/a	n/a
6	EP300	chr1:166729283-166729308	GM12878	blood:	n/a	n/a
7	FOS	chr1:166727708-166728010	MCF10A-Er-Src	breast:	n/a	chr1:166727816-166727823 chr1:166727816-166727824
8	FOS	chr1:166727741-166728016	MCF10A-Er-Src	breast:	n/a	chr1:166727816-166727823 chr1:166727816-166727824
9	FOS	chr1:166727734-166728010	MCF10A-Er-Src	breast:	n/a	chr1:166727816-166727823 chr1:166727816-166727824
10	FOS	chr1:166727748-166727999	MCF10A-Er-Src	breast:	n/a	chr1:166727816-166727823 chr1:166727816-166727824
11	KAP1	chr1:166721645-166721847	K562	blood:	n/a	n/a
12	MAFF	chr1:166728696-166728896	HepG2	liver:	n/a	chr1:166728787-166728805
13	MAFK	chr1:166728665-166728965	IMR90	lung:	n/a	chr1:166728789-166728804
14	MAFK	chr1:166728630-166728951	HepG2	liver:	n/a	chr1:166728789-166728804
15	MAFK	chr1:166728705-166728905	HepG2	liver:	n/a	chr1:166728789-166728804
16	POLR2A	chr1:166732059-166732064	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr1:166732011-166732190	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:166728604-166728751	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr1:166727815-166728010	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF384	chr1:166721741-166721815	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:166728629..166730764-chr1:166733710..166736477,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TADA1-1	chr1:166721105-166721168	NONHSAT007367
2	lnc-TADA1-1	chr1:166729908-166729986	NONHSAT007367
3	lnc-TADA1-1	chr1:166721435-166721593	NONHSAT007367
4	lnc-TADA1-1	chr1:166731450-166731506	NONHSAT007367

Variant related genes	Relation type
FMO11P	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373664871	chr1:166721160-166721161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs560079397	chr1:166721457-166721458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs372073778	chr1:166721515-166721516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs114455941	chr1:166721517-166721518	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs569171089	chr1:166727725-166727726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs12041892	chr1:166727731-166727732	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183886534	chr1:166727733-166727734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143945914	chr1:166727758-166727759	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs146874311	chr1:166727774-166727775	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188882656	chr1:166727789-166727790	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs554590795	chr1:166727843-166727844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs12049207	chr1:166727869-166727870	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541970	chr1:166727929-166727930	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558787922	chr1:166727945-166727946	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs369462551	chr1:166727984-166727985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs71593302	chr1:166727996-166727997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs58847077	chr1:166727997-166727998	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143432475	chr1:166728628-166728629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs540934765	chr1:166728720-166728721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs560735758	chr1:166728724-166728725	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs143849713	chr1:166728755-166728756	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs6658697	chr1:166728756-166728757	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs200570228	chr1:166728805-166728806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs111343144	chr1:166728806-166728807	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs66870890	chr1:166728807-166728808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs199603944	chr1:166728808-166728809	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs75618337	chr1:166728820-166728821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs373412890	chr1:166728821-166728822	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs12749485	chr1:166728864-166728865	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs548340966	chr1:166728900-166728901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539865304	chr1:166728934-166728935	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs561749591	chr1:166728952-166728953	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs189190340	chr1:166729299-166729300	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs180718097	chr1:166729300-166729301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556539271	chr1:166729930-166729931	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs190260087	chr1:166729934-166729935	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs4631663	chr1:166731478-166731479	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187512297	chr1:166731506-166731507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs559662881	chr1:166732080-166732081	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529540	chr1:166732102-166732103	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs552006342	chr1:166732115-166732116	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs571758683	chr1:166732125-166732126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
Pancreatic cancer	17952125	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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