Variant report

Variant	nsv159626
Chromosome Location	chr1:77297958-77305403
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	chr1:77297526..77298368-chr2:54890998..54891931,2	MCF-7	breast:

Extended variants
information (count: 244 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141142938	chr1:77297978-77297979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112806195	chr1:77298014-77298015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189053672	chr1:77298032-77298033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544709024	chr1:77298035-77298036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539553464	chr1:77298070-77298071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575429435	chr1:77298096-77298097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542818740	chr1:77298155-77298156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11162221	chr1:77298373-77298374	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs528331733	chr1:77298376-77298377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546911487	chr1:77298490-77298491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144872823	chr1:77298509-77298510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35269215	chr1:77298542-77298543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35007222	chr1:77298564-77298565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114286625	chr1:77298565-77298566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138623376	chr1:77298584-77298585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551500634	chr1:77298627-77298628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191759748	chr1:77298646-77298647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537151612	chr1:77298673-77298674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183711997	chr1:77298744-77298745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188189663	chr1:77298762-77298763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372986487	chr1:77298800-77298801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534933917	chr1:77298841-77298842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553611131	chr1:77298845-77298846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578213935	chr1:77298851-77298852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149298723	chr1:77298854-77298855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535698440	chr1:77298925-77298926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9660496	chr1:77298983-77298984	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575367588	chr1:77298988-77298989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576046336	chr1:77298991-77298992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116834686	chr1:77299033-77299034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561010190	chr1:77299035-77299036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573051458	chr1:77299051-77299052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540087582	chr1:77299129-77299130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143536479	chr1:77299130-77299131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532326847	chr1:77299135-77299136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563923720	chr1:77299213-77299214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191776365	chr1:77299250-77299251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563541737	chr1:77299288-77299289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530853497	chr1:77299300-77299301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3902868	chr1:77299329-77299330	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs563276506	chr1:77299334-77299335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377115498	chr1:77299336-77299337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1316659	chr1:77299392-77299393	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs956473	chr1:77299479-77299480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148118114	chr1:77299506-77299507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538969511	chr1:77299518-77299519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72680080	chr1:77299536-77299537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76596181	chr1:77299632-77299633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536278840	chr1:77299642-77299643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4630157	chr1:77299644-77299645	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
lymphocytic leukemia	21291569	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77295800-77301000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:77297200-77301400	Enhancers	HMEC	breast
3	chr1:77297400-77299800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:77297600-77299200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:77297600-77299800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:77297600-77299800	Enhancers	NHEK	skin
7	chr1:77297800-77298200	Weak transcription	Spleen	Spleen
8	chr1:77299200-77300200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:77299600-77301400	Enhancers	HSMMtube	muscle
10	chr1:77299800-77300000	Enhancers	Spleen	Spleen
11	chr1:77299800-77300800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:77299800-77300800	Weak transcription	NHEK	skin
13	chr1:77300000-77300400	Enhancers	Fetal Stomach	stomach
14	chr1:77300000-77301200	Enhancers	HSMM	muscle
15	chr1:77300400-77301000	Enhancers	Fetal Lung	lung
16	chr1:77300600-77301400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:77300800-77301400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:77301000-77301200	Enhancers	NHEK	skin
19	chr1:77302800-77303200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:77302800-77303200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:77303200-77307400	Weak transcription	H1 Cell Line	embryonic stem cell

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