Variant report

Variant	nsv945892
Chromosome Location	chr1:75341366-75361268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187177717	chr1:75341459-75341460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151184778	chr1:75341477-75341478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542833071	chr1:75341495-75341496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548528038	chr1:75341505-75341506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139621300	chr1:75341566-75341567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190361696	chr1:75341567-75341568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573766070	chr1:75341580-75341581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182142431	chr1:75341615-75341616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540831822	chr1:75341616-75341617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186032578	chr1:75341620-75341621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577665614	chr1:75341641-75341642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545008466	chr1:75341664-75341665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563332215	chr1:75341689-75341690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370137376	chr1:75341706-75341707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559329679	chr1:75341751-75341752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565654549	chr1:75341766-75341767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561355921	chr1:75341821-75341822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190350653	chr1:75341885-75341886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546832775	chr1:75341886-75341887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376117617	chr1:75341901-75341902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568749045	chr1:75341970-75341971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528561949	chr1:75341973-75341974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144341368	chr1:75341987-75341988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146573868	chr1:75341990-75341991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182569483	chr1:75342011-75342012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141249863	chr1:75342016-75342017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536981914	chr1:75342017-75342018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150187992	chr1:75342031-75342032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537414817	chr1:75342076-75342077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71656810	chr1:75342084-75342085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557543840	chr1:75342087-75342088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145877979	chr1:75342148-75342149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115600799	chr1:75342181-75342182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148998888	chr1:75342206-75342207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190878627	chr1:75342250-75342251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554034270	chr1:75342308-75342309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183890846	chr1:75342341-75342342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143769008	chr1:75342351-75342352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561631177	chr1:75342369-75342370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34806475	chr1:75342384-75342385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs138441364	chr1:75342431-75342432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114527308	chr1:75342448-75342449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533091777	chr1:75342464-75342465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556462311	chr1:75342485-75342486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189248316	chr1:75342516-75342517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193088118	chr1:75342564-75342565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147345797	chr1:75342587-75342588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61595131	chr1:75342588-75342589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397973992	chr1:75342596-75342597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576356589	chr1:75342625-75342626	Enhancers	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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75340600-75342600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:75340800-75342600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:75342600-75343200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:75342600-75343400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:75342800-75343200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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