Variant report

Variant	nsv973079
Chromosome Location	chr12:59413278-59414683
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	chr12:59414340-59414490	AG04449	skin:	n/a	n/a
2	CTCF	chr12:59414340-59414490	AG10803	skin:	n/a	n/a
3	E2F4	chr12:59413124-59413281	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr12:59414056-59414501	T-47D	breast:	n/a	n/a
5	GATA3	chr12:59413913-59414619	T-47D	breast:	n/a	n/a
6	POLR2A	chr12:59414089-59414255	GM12878	blood:	n/a	n/a
7	STAT3	chr12:59413235-59413474	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-362K2.2.1-3	chr12:59413950-59414675	NONHSAT029040

Variant related genes	Relation type
RPS6P22	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75320985	chr12:59413308-59413309	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563073528	chr12:59413341-59413342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574878753	chr12:59413342-59413343	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs545361463	chr12:59413358-59413359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs183404714	chr12:59413411-59413412	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs532649246	chr12:59413427-59413428	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs186653132	chr12:59413535-59413536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528188321	chr12:59413539-59413540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373632260	chr12:59413676-59413677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559681253	chr12:59413681-59413682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192070838	chr12:59413698-59413699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549110575	chr12:59413725-59413726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138129323	chr12:59413828-59413829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570196536	chr12:59413835-59413836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74397303	chr12:59413836-59413837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74091469	chr12:59413838-59413839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570836629	chr12:59413847-59413848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183478823	chr12:59413855-59413856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187705504	chr12:59413870-59413871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192586416	chr12:59413925-59413926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs182147067	chr12:59413933-59413934	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs199907266	chr12:59413963-59413964	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs79953325	chr12:59413966-59413967	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs574966753	chr12:59413984-59413985	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs74091470	chr12:59413992-59413993	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550855977	chr12:59414032-59414033	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs537628974	chr12:59414041-59414042	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs551164479	chr12:59414046-59414047	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs557289481	chr12:59414047-59414048	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs17121854	chr12:59414066-59414067	Weak transcription Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539594252	chr12:59414071-59414072	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs541356673	chr12:59414086-59414087	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs142332266	chr12:59414206-59414207	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs566694374	chr12:59414249-59414250	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs535556595	chr12:59414270-59414271	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555487533	chr12:59414298-59414299	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs542405308	chr12:59414308-59414309	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs563892489	chr12:59414314-59414315	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs113957531	chr12:59414359-59414360	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs372003315	chr12:59414395-59414396	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs552747925	chr12:59414420-59414421	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs555078258	chr12:59414433-59414434	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs570756307	chr12:59414460-59414461	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs143994616	chr12:59414463-59414464	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs375641127	chr12:59414465-59414466	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs557980917	chr12:59414516-59414517	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs186935966	chr12:59414519-59414520	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs546565044	chr12:59414529-59414530	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs377290960	chr12:59414547-59414548	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs59067272	chr12:59414640-59414641	Weak transcription Active TSS	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59408600-59420800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59414000-59414800	Active TSS	NHDF-Ad	bronchial

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