Variant report

Variant	nsv871251
Chromosome Location	chr1:80477880-80556815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1664 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536084133	chr1:80484254-80484255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192491575	chr1:80484294-80484295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114062100	chr1:80484307-80484308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533660683	chr1:80484337-80484338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143894814	chr1:80484342-80484343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576436725	chr1:80484389-80484390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114688747	chr1:80484462-80484463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184653650	chr1:80484463-80484464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147278091	chr1:80484466-80484467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542889757	chr1:80484483-80484484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368058958	chr1:80484530-80484531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115915787	chr1:80484573-80484574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115825200	chr1:80484600-80484601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545089676	chr1:80489271-80489272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563159992	chr1:80489301-80489302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530478416	chr1:80489310-80489311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543769759	chr1:80489316-80489317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562399434	chr1:80489330-80489331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529493234	chr1:80489347-80489348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547566008	chr1:80489386-80489387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559522819	chr1:80490053-80490054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533307315	chr1:80490093-80490094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551621414	chr1:80490126-80490127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563797917	chr1:80490134-80490135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190276891	chr1:80490144-80490145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549343620	chr1:80490168-80490169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567629067	chr1:80490183-80490184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572540786	chr1:80502420-80502421	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs183736337	chr1:80502441-80502442	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs116565863	chr1:80502442-80502443	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527921785	chr1:80502457-80502458	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561335103	chr1:80502465-80502466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189366848	chr1:80502515-80502516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529999623	chr1:80502527-80502528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76814880	chr1:80502538-80502539	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs550510898	chr1:80502589-80502590	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs78270866	chr1:80502611-80502612	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560677230	chr1:80502629-80502630	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549829219	chr1:80502672-80502673	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150741978	chr1:80502743-80502744	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181350547	chr1:80502757-80502758	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547421264	chr1:80502800-80502801	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374785954	chr1:80502865-80502866	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563943683	chr1:80502879-80502880	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139117267	chr1:80502953-80502954	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557985680	chr1:80503057-80503058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576273997	chr1:80503059-80503060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186359976	chr1:80503117-80503118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145134058	chr1:80503127-80503128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147708870	chr1:80503155-80503156	Enhancers	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80484200-80484600	Enhancers	Psoas Muscle	Psoas
2	chr1:80489200-80489400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:80490000-80490200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:80502400-80502800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:80502400-80503000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:80502600-80503000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:80502600-80503000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:80503000-80503400	Enhancers	Fetal Heart	heart
9	chr1:80503200-80504000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:80504000-80507600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:80507600-80508200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:80508200-80508600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:80508600-80508800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:80511400-80519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:80512600-80512800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:80512800-80516000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:80516000-80516200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:80516200-80516600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:80516200-80519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:80517000-80519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:80519000-80519600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:80519400-80519800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:80519400-80520800	Enhancers	HMEC	breast
24	chr1:80519600-80520000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:80519600-80520000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:80519600-80520000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:80519600-80520200	Enhancers	Left Ventricle	heart
28	chr1:80519600-80520400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:80519600-80520400	Enhancers	NH-A	brain
30	chr1:80519600-80520800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:80519800-80520200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:80519800-80520200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:80519800-80520200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:80519800-80520200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:80519800-80520200	Enhancers	Hela-S3	cervix
36	chr1:80519800-80520400	Enhancers	A549	lung
37	chr1:80519800-80520800	Enhancers	NHEK	skin
38	chr1:80520800-80521800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:80520800-80530000	Weak transcription	NHEK	skin
40	chr1:80521800-80522400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:80522400-80525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:80525400-80525800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:80525800-80529800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:80526000-80529800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:80529400-80530800	Enhancers	HMEC	breast
46	chr1:80529800-80530200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:80529800-80530200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:80530000-80530400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:80530000-80530400	Enhancers	NHEK	skin
50	chr1:80530000-80532400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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