Variant report

Variant	nsv823032
Chromosome Location	chr1:63432853-63433390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 93 )

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	rs554503967	chr1:63432865-63432866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572817784	chr1:63432871-63432872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12135655	chr1:63432872-63432873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541774923	chr1:63432876-63432877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74077407	chr1:63432881-63432882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543171817	chr1:63432934-63432935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185738355	chr1:63432935-63432936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532202200	chr1:63432944-63432945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74077408	chr1:63432950-63432951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559179233	chr1:63432964-63432965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529940087	chr1:63432982-63432983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370802200	chr1:63432988-63432989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12140292	chr1:63433014-63433015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531766820	chr1:63433017-63433018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12121455	chr1:63433037-63433038	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs36113212	chr1:63433038-63433039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149681040	chr1:63433046-63433047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541492607	chr1:63433058-63433059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114646834	chr1:63433062-63433063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368222065	chr1:63433067-63433068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566332121	chr1:63433070-63433071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113062963	chr1:63433071-63433072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201786532	chr1:63433108-63433109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386631796	chr1:63433109-63433110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74077411	chr1:63433110-63433111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537094545	chr1:63433127-63433128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559729515	chr1:63433167-63433168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12140346	chr1:63433202-63433203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145525858	chr1:63433205-63433206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540779023	chr1:63433215-63433216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559144101	chr1:63433220-63433221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548621004	chr1:63433228-63433229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574355749	chr1:63433252-63433253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541705801	chr1:63433273-63433274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563628711	chr1:63433290-63433291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531606395	chr1:63433294-63433295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74077412	chr1:63433311-63433312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565194700	chr1:63433315-63433316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532657623	chr1:63433361-63433362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63427600-63434200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:63432400-63433200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:63432600-63433200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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