Variant report

Variant	nsv945996
Chromosome Location	chr1:72739967-72740600
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	chr1:72740485-72740540	GM10248	blood:	n/a	n/a
2	E2F4	chr1:72739920-72740069	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
GDI2P2	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550439783	chr1:72740031-72740032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115031542	chr1:72740038-72740039	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs573132399	chr1:72740055-72740056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12127789	chr1:72740073-72740074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs185045795	chr1:72740148-72740149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560964494	chr1:72740163-72740164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575341368	chr1:72740211-72740212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188089548	chr1:72740267-72740268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114938355	chr1:72740270-72740271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533093155	chr1:72740271-72740272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114308590	chr1:72740282-72740283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77103375	chr1:72740313-72740314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559630255	chr1:72740341-72740342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114875057	chr1:72740418-72740419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180927063	chr1:72740420-72740421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368821966	chr1:72740421-72740422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568348234	chr1:72740442-72740443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140988767	chr1:72740489-72740490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550815880	chr1:72740493-72740494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186123772	chr1:72740509-72740510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566552069	chr1:72740539-72740540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150226892	chr1:72740545-72740546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553154944	chr1:72740592-72740593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566821976	chr1:72740593-72740594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72737600-72744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:72738000-72744200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:72738000-72745800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:72739000-72744400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:72739200-72741600	Weak transcription	Colon Smooth Muscle	Colon

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