Variant report

Variant	nsv871409
Chromosome Location	chr1:80515164-80556815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1262 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1262 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12120477	chr1:80515164-80515165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12747892	chr1:80515170-80515171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547724434	chr1:80515208-80515209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566553360	chr1:80515214-80515215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12123981	chr1:80515241-80515242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369827078	chr1:80515246-80515247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186725830	chr1:80515249-80515250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74941356	chr1:80515271-80515272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192962209	chr1:80515289-80515290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12026161	chr1:80515298-80515299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138227612	chr1:80515359-80515360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555317575	chr1:80515376-80515377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535565835	chr1:80515392-80515393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12124056	chr1:80515426-80515427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538138303	chr1:80515434-80515435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141952925	chr1:80515456-80515457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545823347	chr1:80515482-80515483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557976591	chr1:80515497-80515498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182843806	chr1:80515552-80515553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188719452	chr1:80515665-80515666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561807876	chr1:80515730-80515731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192821951	chr1:80515750-80515751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530208152	chr1:80515792-80515793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114250080	chr1:80515816-80515817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560224879	chr1:80515861-80515862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372856842	chr1:80515894-80515895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527734850	chr1:80515937-80515938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552177897	chr1:80515960-80515961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184715074	chr1:80515971-80515972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531666414	chr1:80515981-80515982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145815752	chr1:80515987-80515988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138665439	chr1:80515999-80516000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535637727	chr1:80516012-80516013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553967095	chr1:80516030-80516031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189504278	chr1:80516031-80516032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141183337	chr1:80516042-80516043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150328484	chr1:80516045-80516046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545590246	chr1:80516064-80516065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138257456	chr1:80516090-80516091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12124976	chr1:80516126-80516127	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs199632169	chr1:80516127-80516128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111620232	chr1:80516129-80516130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74823684	chr1:80516138-80516139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542022860	chr1:80516150-80516151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560285607	chr1:80516179-80516180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561654741	chr1:80516181-80516182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527795691	chr1:80516186-80516187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149622516	chr1:80516189-80516190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545879521	chr1:80516192-80516193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199727507	chr1:80516206-80516207	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80511400-80519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:80512800-80516000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:80516000-80516200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:80516200-80516600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:80516200-80519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:80517000-80519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:80519000-80519600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:80519400-80519800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:80519400-80520800	Enhancers	HMEC	breast
10	chr1:80519600-80520000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:80519600-80520000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:80519600-80520000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:80519600-80520200	Enhancers	Left Ventricle	heart
14	chr1:80519600-80520400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:80519600-80520400	Enhancers	NH-A	brain
16	chr1:80519600-80520800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:80519800-80520200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:80519800-80520200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:80519800-80520200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:80519800-80520200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:80519800-80520200	Enhancers	Hela-S3	cervix
22	chr1:80519800-80520400	Enhancers	A549	lung
23	chr1:80519800-80520800	Enhancers	NHEK	skin
24	chr1:80520800-80521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:80520800-80530000	Weak transcription	NHEK	skin
26	chr1:80521800-80522400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:80522400-80525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:80525400-80525800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:80525800-80529800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:80526000-80529800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:80529400-80530800	Enhancers	HMEC	breast
32	chr1:80529800-80530200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:80529800-80530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:80530000-80530400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:80530000-80530400	Enhancers	NHEK	skin
36	chr1:80530000-80532400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:80530200-80531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:80530200-80531800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:80530400-80531600	Weak transcription	NHEK	skin
40	chr1:80530800-80531800	Weak transcription	HMEC	breast
41	chr1:80531200-80532200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:80531600-80532000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:80531600-80532000	Enhancers	NH-A	brain
44	chr1:80531600-80532200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr1:80531600-80532200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:80531800-80532000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:80531800-80532000	Enhancers	NHEK	skin
48	chr1:80531800-80532200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:80531800-80532600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:80532000-80532200	Enhancers	HMEC	breast

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