Variant report

Variant	nsv945927
Chromosome Location	chr1:47309537-47318383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141978087	chr1:47309538-47309539	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7543953	chr1:47309541-47309542	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373794046	chr1:47309542-47309543	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189408063	chr1:47309552-47309553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539962283	chr1:47309563-47309564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562532524	chr1:47309580-47309581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537258057	chr1:47309581-47309582	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556179566	chr1:47309586-47309587	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556364713	chr1:47309622-47309623	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112880386	chr1:47309632-47309633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553840062	chr1:47309648-47309649	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572346566	chr1:47309656-47309657	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181375906	chr1:47309678-47309679	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561712738	chr1:47309697-47309698	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374465973	chr1:47309716-47309717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374374138	chr1:47309745-47309746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543255579	chr1:47309750-47309751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562184104	chr1:47309796-47309797	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55899874	chr1:47309830-47309831	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3863632	chr1:47309833-47309834	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541006004	chr1:47309838-47309839	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559370008	chr1:47309909-47309910	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186740449	chr1:47309913-47309914	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551618715	chr1:47309914-47309915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570259014	chr1:47310021-47310022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531109157	chr1:47310027-47310028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540883204	chr1:47310045-47310046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138644707	chr1:47310192-47310193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200289239	chr1:47310209-47310210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189223750	chr1:47310223-47310224	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535570334	chr1:47310237-47310238	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36021925	chr1:47310258-47310259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564355227	chr1:47310266-47310267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568122637	chr1:47310326-47310327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532975030	chr1:47310334-47310335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534194757	chr1:47310354-47310355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372212671	chr1:47310359-47310360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370112604	chr1:47310417-47310418	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557985177	chr1:47310427-47310428	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540521636	chr1:47310441-47310442	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371648933	chr1:47310524-47310525	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537214292	chr1:47310529-47310530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181874128	chr1:47310556-47310557	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6658037	chr1:47310599-47310600	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs138032030	chr1:47310602-47310603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142614926	chr1:47310621-47310622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544017187	chr1:47310622-47310623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386630920	chr1:47310629-47310630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12073509	chr1:47310630-47310631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565630410	chr1:47310642-47310643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	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
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47301400-47311600	Weak transcription	Esophagus	oesophagus
2	chr1:47305800-47315200	Weak transcription	Left Ventricle	heart
3	chr1:47309400-47310600	Strong transcription	Adipose Nuclei	Adipose
4	chr1:47310600-47315200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:47311600-47312200	ZNF genes & repeats	Esophagus	oesophagus

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