Variant report

Variant	nsv947268
Chromosome Location	chr1:71722498-71726971
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	chr1:71545214..71547722-chr1:71720590..71722886,2	K562	blood:

Variant related genes	Relation type
ENSG00000132485	chromatin interactions
ENSG00000229956	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552674779	chr1:71722499-71722500	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs573914583	chr1:71722514-71722515	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535051792	chr1:71722534-71722535	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs151141419	chr1:71722550-71722551	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs568815574	chr1:71722597-71722598	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs191791822	chr1:71722700-71722701	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557538206	chr1:71722823-71722824	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577322946	chr1:71722844-71722845	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373859169	chr1:71722878-71722879	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs374313360	chr1:71723214-71723215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577753763	chr1:71723244-71723245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1546809	chr1:71723278-71723279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs145350600	chr1:71723290-71723291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548642091	chr1:71723324-71723325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181935399	chr1:71723459-71723460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186579376	chr1:71723486-71723487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537749882	chr1:71723521-71723522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190802979	chr1:71723528-71723529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527563452	chr1:71723553-71723554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137921917	chr1:71723592-71723593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542922205	chr1:71723631-71723632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181917540	chr1:71723684-71723685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71651471	chr1:71723686-71723687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142579643	chr1:71723751-71723752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11209756	chr1:71723853-71723854	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs75172260	chr1:71723867-71723868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185431439	chr1:71723884-71723885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575103163	chr1:71723953-71723954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544509333	chr1:71723956-71723957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189792455	chr1:71724061-71724062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372104909	chr1:71724063-71724064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77940736	chr1:71724067-71724068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182152821	chr1:71724071-71724072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369422319	chr1:71724088-71724089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12403702	chr1:71724139-71724140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527320131	chr1:71724160-71724161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567130522	chr1:71724187-71724188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150136659	chr1:71724260-71724261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59260746	chr1:71724270-71724271	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149321466	chr1:71724276-71724277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530780099	chr1:71724318-71724319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550940197	chr1:71724364-71724365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144579417	chr1:71724365-71724366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539740893	chr1:71724422-71724423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546831249	chr1:71724437-71724438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566685148	chr1:71724476-71724477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148508170	chr1:71724477-71724478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550048934	chr1:71724527-71724528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555133735	chr1:71724536-71724537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568917663	chr1:71724573-71724574	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71723200-71724600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:71725800-71726000	Enhancers	Fetal Brain Female	brain

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