Variant report

Variant	nsv528189
Chromosome Location	chr1:80613215-80631231
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	chr1:80624318..80626596-chr1:80627891..80630503,3	MCF-7	breast:
2	chr1:80624318..80626596-chr1:80627891..80630503,3	MCF-7	breast:

Extended variants
information (count: 424 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574892579	chr1:80619400-80619401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141144920	chr1:80619406-80619407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116582688	chr1:80619427-80619428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577110740	chr1:80619430-80619431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74858797	chr1:80619445-80619446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35462884	chr1:80619465-80619466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564511520	chr1:80619479-80619480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112799594	chr1:80619493-80619494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561145791	chr1:80619494-80619495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138389352	chr1:80619547-80619548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149234016	chr1:80619555-80619556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11810657	chr1:80619562-80619563	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529799747	chr1:80619569-80619570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565119089	chr1:80619575-80619576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186566280	chr1:80619592-80619593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143499665	chr1:80619621-80619622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11809570	chr1:80619633-80619634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs374444347	chr1:80619662-80619663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11810674	chr1:80619663-80619664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569238351	chr1:80619666-80619667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569699486	chr1:80619710-80619711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538250622	chr1:80619721-80619722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554718341	chr1:80619726-80619727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375227685	chr1:80619730-80619731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538718877	chr1:80619746-80619747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534073932	chr1:80619761-80619762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs11811904	chr1:80619902-80619903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12145686	chr1:80619910-80619911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539711776	chr1:80619976-80619977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35340930	chr1:80620001-80620002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111902014	chr1:80620004-80620005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556450198	chr1:80620006-80620007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574848032	chr1:80620007-80620008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397860551	chr1:80620008-80620009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116273195	chr1:80620041-80620042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148019968	chr1:80620070-80620071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565659051	chr1:80620107-80620108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574460700	chr1:80620128-80620129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539985674	chr1:80620141-80620142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113381724	chr1:80620144-80620145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369704120	chr1:80620190-80620191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189458712	chr1:80620191-80620192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180980383	chr1:80620211-80620212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77376938	chr1:80620225-80620226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531553239	chr1:80620236-80620237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548553263	chr1:80620251-80620252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79847969	chr1:80620253-80620254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534278896	chr1:80620259-80620260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111312007	chr1:80620289-80620290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34484851	chr1:80620327-80620328	Weak transcription	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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80619400-80620200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:80619800-80620000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:80620200-80626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:80621000-80621800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:80621000-80621800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:80621200-80621600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:80621400-80621600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:80621400-80622000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:80621400-80622200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:80621600-80623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:80621800-80623000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:80621800-80623000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:80621800-80623000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:80622000-80623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:80622200-80623200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:80623000-80624200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:80623000-80624200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:80623000-80624200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:80623000-80624600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:80623000-80624600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:80623200-80624200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:80623400-80624800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:80623600-80625200	Enhancers	Fetal Brain Male	brain
24	chr1:80623800-80624200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:80623800-80624200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:80624200-80626000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:80624600-80624800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:80624600-80624800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:80624800-80625000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:80624800-80629200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:80625200-80630000	Weak transcription	Fetal Brain Male	brain
32	chr1:80625400-80628400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:80626000-80627000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr1:80626600-80627000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:80628400-80629200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:80628800-80629600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:80628800-80629600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:80629200-80629600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:80629200-80629600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:80629200-80629600	Enhancers	Fetal Brain Female	brain
41	chr1:80630000-80630400	Enhancers	Fetal Brain Male	brain

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