Variant report

Variant	nsv871739
Chromosome Location	chr1:80455734-80556815
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	chr1:80455740..80458353-chr1:80460069..80462983,2	MCF-7	breast:
2	chr1:80455740..80458353-chr1:80460069..80462983,2	MCF-7	breast:

Extended variants
information (count: 1736 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1736 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17104213	chr1:80455734-80455735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201733724	chr1:80455752-80455753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17104215	chr1:80455800-80455801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2184614	chr1:80455818-80455819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538848405	chr1:80455827-80455828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192721806	chr1:80455848-80455849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143160732	chr1:80455851-80455852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542868097	chr1:80455866-80455867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183967281	chr1:80455869-80455870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74097129	chr1:80455929-80455930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs186767320	chr1:80455986-80455987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199976687	chr1:80456007-80456008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150706479	chr1:80456014-80456015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533363241	chr1:80456020-80456021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374172255	chr1:80456042-80456043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374020808	chr1:80456080-80456081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558895878	chr1:80456081-80456082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74612977	chr1:80456116-80456117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372825958	chr1:80456163-80456164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545295313	chr1:80456190-80456191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139044658	chr1:80456197-80456198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529779190	chr1:80456199-80456200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541892662	chr1:80456244-80456245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372611584	chr1:80456291-80456292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376937586	chr1:80456344-80456345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560293666	chr1:80456379-80456380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71645120	chr1:80456426-80456427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5775523	chr1:80456432-80456433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397703667	chr1:80456434-80456435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559954465	chr1:80456442-80456443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1934813	chr1:80456524-80456525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551707739	chr1:80456543-80456544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571614456	chr1:80456544-80456545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552842245	chr1:80456554-80456555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550792108	chr1:80456560-80456561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191899021	chr1:80456567-80456568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114006229	chr1:80456588-80456589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543963944	chr1:80456605-80456606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530379340	chr1:80456618-80456619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117137517	chr1:80456672-80456673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184083226	chr1:80456756-80456757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534195253	chr1:80456860-80456861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558984285	chr1:80456861-80456862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577255284	chr1:80456880-80456881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114628855	chr1:80456970-80456971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149895115	chr1:80456986-80456987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370920959	chr1:80457023-80457024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115276078	chr1:80457081-80457082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541629593	chr1:80457117-80457118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560194326	chr1:80457151-80457152	Weak transcription	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80449000-80457600	Weak transcription	Fetal Heart	heart
2	chr1:80457600-80458000	Enhancers	Fetal Heart	heart
3	chr1:80484200-80484600	Enhancers	Psoas Muscle	Psoas
4	chr1:80489200-80489400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:80490000-80490200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:80502400-80502800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:80502400-80503000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:80502600-80503000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:80502600-80503000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:80503000-80503400	Enhancers	Fetal Heart	heart
11	chr1:80503200-80504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:80504000-80507600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:80507600-80508200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:80508200-80508600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:80508600-80508800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:80511400-80519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:80512600-80512800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:80512800-80516000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:80516000-80516200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:80516200-80516600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:80516200-80519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:80517000-80519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:80519000-80519600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:80519400-80519800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:80519400-80520800	Enhancers	HMEC	breast
26	chr1:80519600-80520000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:80519600-80520000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:80519600-80520000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:80519600-80520200	Enhancers	Left Ventricle	heart
30	chr1:80519600-80520400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:80519600-80520400	Enhancers	NH-A	brain
32	chr1:80519600-80520800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:80519800-80520200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:80519800-80520200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:80519800-80520200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:80519800-80520200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:80519800-80520200	Enhancers	Hela-S3	cervix
38	chr1:80519800-80520400	Enhancers	A549	lung
39	chr1:80519800-80520800	Enhancers	NHEK	skin
40	chr1:80520800-80521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:80520800-80530000	Weak transcription	NHEK	skin
42	chr1:80521800-80522400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:80522400-80525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:80525400-80525800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:80525800-80529800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:80526000-80529800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:80529400-80530800	Enhancers	HMEC	breast
48	chr1:80529800-80530200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:80529800-80530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:80530000-80530400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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