Variant report

Variant	nsv525370
Chromosome Location	chr1:70361833-70367087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578114756	chr1:70362414-70362415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76779960	chr1:70362447-70362448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10889860	chr1:70362453-70362454	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs528241277	chr1:70362454-70362455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12755858	chr1:70362492-70362493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147924938	chr1:70362532-70362533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190053002	chr1:70362537-70362538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528493927	chr1:70363800-70363801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548590698	chr1:70363817-70363818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12741438	chr1:70363832-70363833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568457374	chr1:70363863-70363864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138161892	chr1:70363888-70363889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182047577	chr1:70363935-70363936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149553599	chr1:70364007-70364008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536784541	chr1:70364070-70364071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187040995	chr1:70364143-70364144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191841346	chr1:70364156-70364157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184861278	chr1:70364238-70364239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1913272	chr1:70364260-70364261	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6681560	chr1:70364313-70364314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs555389675	chr1:70364345-70364346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148309399	chr1:70364346-70364347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58433918	chr1:70364372-70364373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35234345	chr1:70364374-70364375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575242387	chr1:70364382-70364383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188476915	chr1:70364398-70364399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79460999	chr1:70364403-70364404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532981872	chr1:70364458-70364459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540103402	chr1:70364467-70364468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs117774041	chr1:70364529-70364530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529232932	chr1:70364563-70364564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548281008	chr1:70364599-70364600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568451563	chr1:70364604-70364605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193083751	chr1:70364610-70364611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551113704	chr1:70364617-70364618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571020658	chr1:70364628-70364629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112204896	chr1:70364723-70364724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553560346	chr1:70364750-70364751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539405525	chr1:70364766-70364767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35460120	chr1:70364768-70364769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189364537	chr1:70364787-70364788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555026439	chr1:70364859-70364860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575198587	chr1:70364924-70364925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371698767	chr1:70364931-70364932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9787350	chr1:70364947-70364948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180898433	chr1:70364966-70364967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144226173	chr1:70364970-70364971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183645045	chr1:70364979-70364980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560335020	chr1:70364990-70364991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148332503	chr1:70364995-70364996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Esophageal cancer	21851588	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70362400-70362600	Enhancers	Brain Cingulate Gyrus	brain
2	chr1:70363800-70364400	Enhancers	Brain Angular Gyrus	brain
3	chr1:70364200-70364800	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:70364400-70365000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:70365000-70365200	Enhancers	Brain Angular Gyrus	brain
6	chr1:70366600-70367600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:70366600-70368000	Enhancers	Primary monocytes fromperipheralblood	blood

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