Variant report

Variant	nsv1003527
Chromosome Location	chr1:71989558-72025236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:
2	chr1:71914181..71914987-chr1:71994857..71995392,2	MCF-7	breast:
3	chr1:71999742..72002338-chr1:72004237..72006928,2	K562	blood:

Extended variants
information (count: 347 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559452169	chr1:71992243-71992244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs11807423	chr1:71992306-71992307	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548577336	chr1:71992307-71992308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72938066	chr1:71992326-71992327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537236531	chr1:71992328-71992329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371137107	chr1:71992418-71992419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570224882	chr1:71992464-71992465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545958491	chr1:71992477-71992478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539113343	chr1:71992492-71992493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17091316	chr1:71992530-71992531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572728945	chr1:71992535-71992536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376224515	chr1:71992540-71992541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535777256	chr1:71992595-71992596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555365769	chr1:71992622-71992623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182381384	chr1:71992751-71992752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544422421	chr1:71992780-71992781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572777801	chr1:71992803-71992804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188472901	chr1:71992844-71992845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370440652	chr1:71992847-71992848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72938067	chr1:71992874-71992875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564337783	chr1:71992894-71992895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146461557	chr1:71992957-71992958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374111869	chr1:71992962-71992963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72938068	chr1:71993006-71993007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77410693	chr1:71993018-71993019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375659414	chr1:71993050-71993051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144336006	chr1:71993086-71993087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72938069	chr1:71993127-71993128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562049477	chr1:71993130-71993131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531072095	chr1:71993132-71993133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200987066	chr1:71993133-71993134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541695999	chr1:71993155-71993156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17091319	chr1:71993156-71993157	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1213441	chr1:71993194-71993195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs12135898	chr1:71998031-71998032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545985771	chr1:71998045-71998046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559246669	chr1:71998058-71998059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115724066	chr1:71998063-71998064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527829794	chr1:71998144-71998145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183665345	chr1:71998180-71998181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370552996	chr1:71998199-71998200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113658292	chr1:71998214-71998215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78174581	chr1:71998319-71998320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144993912	chr1:71998350-71998351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550152746	chr1:71998402-71998403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148289445	chr1:71998450-71998451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538930623	chr1:71998453-71998454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533375991	chr1:71998506-71998507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141480050	chr1:71998518-71998519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533742174	chr1:71998527-71998528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
small cell lung cancer	20016488	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
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71992200-71992600	Enhancers	Osteobl	bone
2	chr1:71992200-71993200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:71997800-71998200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:71998200-72002000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:71999000-72000400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71999800-72000200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:72000800-72001000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:72002000-72002200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:72003800-72004400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:72013200-72013800	Enhancers	Fetal Brain Male	brain
11	chr1:72018800-72019200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:72018800-72019400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:72019400-72020400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:72022800-72023000	Enhancers	Osteobl	bone
15	chr1:72023000-72025200	Weak transcription	Osteobl	bone
16	chr1:72023800-72025000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:72024800-72025800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:72025000-72025400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:72025200-72025400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:72025200-72025400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:72025200-72027200	Enhancers	Osteobl	bone

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