Variant report

Variant	nsv1014047
Chromosome Location	chr1:72003562-72022230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569204177	chr1:72003817-72003818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs357240	chr1:72003824-72003825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs557824004	chr1:72003842-72003843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571921360	chr1:72003872-72003873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12240058	chr1:72003897-72003898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs578065580	chr1:72003907-72003908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148114653	chr1:72003962-72003963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143892849	chr1:72004000-72004001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542784034	chr1:72004029-72004030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78649296	chr1:72004044-72004045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576015594	chr1:72004089-72004090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17091340	chr1:72004095-72004096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564699712	chr1:72004102-72004103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548636487	chr1:72004128-72004129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572332926	chr1:72004136-72004137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370316928	chr1:72004147-72004148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558161453	chr1:72004148-72004149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567045076	chr1:72004190-72004191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375588949	chr1:72004253-72004254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1360702	chr1:72004274-72004275	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78699825	chr1:72004313-72004314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549520173	chr1:72004345-72004346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563007485	chr1:72004355-72004356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147303369	chr1:72004398-72004399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530392356	chr1:72013233-72013234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191140765	chr1:72013237-72013238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140475373	chr1:72013250-72013251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182203499	chr1:72013255-72013256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187172863	chr1:72013339-72013340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190150700	chr1:72013348-72013349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529750118	chr1:72013360-72013361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182381209	chr1:72013399-72013400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187444865	chr1:72013427-72013428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199552595	chr1:72013431-72013432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142135159	chr1:72013432-72013433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375472418	chr1:72013438-72013439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568283758	chr1:72013440-72013441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537328812	chr1:72013521-72013522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556910643	chr1:72013532-72013533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577102002	chr1:72013611-72013612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192830404	chr1:72013612-72013613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11799370	chr1:72013640-72013641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572539074	chr1:72013742-72013743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541089332	chr1:72013743-72013744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561314698	chr1:72013748-72013749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575067388	chr1:72013762-72013763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544086825	chr1:72013785-72013786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545052278	chr1:72018804-72018805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547701704	chr1:72018931-72018932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561523416	chr1:72018941-72018942	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
small cell lung cancer	20016488	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
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72003800-72004400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr1:72013200-72013800	Enhancers	Fetal Brain Male	brain
3	chr1:72018800-72019200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:72018800-72019400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:72019400-72020400	Weak transcription	Muscle Satellite Cultured Cells	--

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