Variant report

Variant	nsv159019
Chromosome Location	chr1:80093561-80101313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:80091538..80094295-chr1:80099191..80102045,2	K562	blood:
2	chr1:80091538..80094295-chr1:80099191..80102045,2	K562	blood:
3	chr1:80098711..80101528-chr1:80111688..80113709,2	K562	blood:

Extended variants
information (count: 179 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376832455	chr1:80093561-80093562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369895600	chr1:80093562-80093563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372543458	chr1:80093563-80093564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369227564	chr1:80093568-80093569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544309452	chr1:80093592-80093593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188278631	chr1:80093594-80093595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143896485	chr1:80093644-80093645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373662021	chr1:80093666-80093667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541723653	chr1:80093725-80093726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560430300	chr1:80093826-80093827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115396394	chr1:80093842-80093843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147281831	chr1:80093890-80093891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570550635	chr1:80093892-80093893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531390488	chr1:80093910-80093911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549926849	chr1:80093932-80093933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535908525	chr1:80093934-80093935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181153824	chr1:80093935-80093936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185643557	chr1:80094001-80094002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554943552	chr1:80094049-80094050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540439972	chr1:80094051-80094052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567200955	chr1:80094068-80094069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191208673	chr1:80094072-80094073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553658698	chr1:80094086-80094087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76097544	chr1:80094146-80094147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201665484	chr1:80094151-80094152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544270682	chr1:80094168-80094169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138092227	chr1:80094199-80094200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368407374	chr1:80094262-80094263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567301651	chr1:80094345-80094346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574724260	chr1:80094381-80094382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542234730	chr1:80094453-80094454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560181769	chr1:80094542-80094543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527620486	chr1:80094602-80094603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546125610	chr1:80094610-80094611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564247772	chr1:80094629-80094630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574082969	chr1:80094638-80094639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201329991	chr1:80094660-80094661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181641367	chr1:80094666-80094667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17103439	chr1:80094718-80094719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531623410	chr1:80094753-80094754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549888146	chr1:80094770-80094771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544985828	chr1:80094858-80094859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186837291	chr1:80094908-80094909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565586095	chr1:80094910-80094911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374621536	chr1:80094924-80094925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200423505	chr1:80094953-80094954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192181060	chr1:80094963-80094964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375851531	chr1:80094964-80094965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547410344	chr1:80094982-80094983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565548945	chr1:80094995-80094996	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Ewing''s sarcoma	17952124	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
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80093400-80094600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:80094600-80095800	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:80098800-80099800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:80099000-80099600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:80099000-80099800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:80099400-80099600	Enhancers	NH-A	brain
7	chr1:80099400-80099800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:80099400-80099800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:80099400-80099800	Enhancers	NHDF-Ad	bronchial
10	chr1:80099800-80107800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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