Variant report

Variant	nsv946075
Chromosome Location	chr1:92694174-92696985
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	chr1:92694281-92694336	GM20000	blood:	n/a	n/a
2	HEY1	chr1:92694111-92694517	K562	blood:	n/a	n/a
3	POLR2A	chr1:92694236-92694534	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:92694235-92694431	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:92696941-92696961	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr1:92694061-92694472	GM12891	blood:	n/a	n/a
7	POLR2A	chr1:92694245-92694447	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:92694064-92694511	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:92694048-92694543	GM12892	blood:	n/a	n/a
10	POLR2A	chr1:92694068-92694465	GM12891	blood:	n/a	n/a
11	POLR2A	chr1:92694051-92694613	GM12878	blood:	n/a	n/a
12	YY1	chr1:92695055-92695183	K562	blood:	n/a	chr1:92695159-92695167 chr1:92695148-92695170

Variant related genes	Relation type
ACTBP12	TF binding region
ENSG00000265543	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186558949	chr1:92694433-92694434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532836849	chr1:92694449-92694450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575770053	chr1:92694455-92694456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547724152	chr1:92694457-92694458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559305840	chr1:92694472-92694473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530063081	chr1:92694473-92694474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548245407	chr1:92694474-92694475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370699734	chr1:92694528-92694529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570148253	chr1:92694568-92694569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536802615	chr1:92694578-92694579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542897005	chr1:92694592-92694593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552348479	chr1:92694624-92694625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570598160	chr1:92694674-92694675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544744190	chr1:92694677-92694678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534905556	chr1:92694685-92694686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553334667	chr1:92694694-92694695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375168304	chr1:92694711-92694712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35254986	chr1:92694763-92694764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535458562	chr1:92694765-92694766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557055225	chr1:92694796-92694797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564034337	chr1:92695018-92695019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529999898	chr1:92695043-92695044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548184583	chr1:92695075-92695076	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs191740743	chr1:92695087-92695088	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs531027422	chr1:92695134-92695135	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs552426739	chr1:92695146-92695147	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs577358424	chr1:92695151-92695152	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs528634584	chr1:92695190-92695191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570606229	chr1:92695224-92695225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534836798	chr1:92695251-92695252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183915273	chr1:92695286-92695287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187467936	chr1:92695290-92695291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113559985	chr1:92695316-92695317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375226455	chr1:92695318-92695319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150562222	chr1:92695353-92695354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192891845	chr1:92695356-92695357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12406749	chr1:92695398-92695399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376466599	chr1:92696941-92696942	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs558174645	chr1:92696958-92696959	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92694400-92694800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:92694600-92694800	Enhancers	Pancreas	Pancrea
3	chr1:92695000-92695400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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