Variant report

Variant	nsv947271
Chromosome Location	chr1:72505967-72512668
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	chr1:72511431..72513999-chr1:72515087..72517593,2	K562	blood:

Extended variants
information (count: 254 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12723367	chr1:72505986-72505987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12723368	chr1:72505988-72505989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71653505	chr1:72506020-72506021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538099590	chr1:72506023-72506024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1385918	chr1:72506044-72506045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs71653506	chr1:72506053-72506054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577604941	chr1:72506058-72506059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548213526	chr1:72506070-72506071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371442325	chr1:72506111-72506112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553476591	chr1:72506113-72506114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12135016	chr1:72506116-72506117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150346888	chr1:72506157-72506158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573370740	chr1:72506187-72506188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145784367	chr1:72506199-72506200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567959185	chr1:72506204-72506205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562268875	chr1:72506234-72506235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12127580	chr1:72506243-72506244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145671720	chr1:72506258-72506259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71653507	chr1:72506261-72506262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111235660	chr1:72506281-72506282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570703579	chr1:72506289-72506290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5775102	chr1:72506294-72506295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2821279	chr1:72506333-72506334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372840388	chr1:72506384-72506385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180773095	chr1:72506420-72506421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185621458	chr1:72506493-72506494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17092211	chr1:72506536-72506537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs139801563	chr1:72506556-72506557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75629103	chr1:72506567-72506568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190085375	chr1:72506579-72506580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560584481	chr1:72506682-72506683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529368851	chr1:72506683-72506684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548912332	chr1:72506684-72506685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569082648	chr1:72506700-72506701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143607757	chr1:72506815-72506816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147198646	chr1:72506871-72506872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571184160	chr1:72506914-72506915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538655326	chr1:72506985-72506986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533561596	chr1:72506993-72506994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183065850	chr1:72507027-72507028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567030781	chr1:72507042-72507043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536298087	chr1:72507111-72507112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199545734	chr1:72507115-72507116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552107464	chr1:72507129-72507130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371308191	chr1:72507130-72507131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188420055	chr1:72507146-72507147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575830845	chr1:72507187-72507188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72680860	chr1:72507233-72507234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558446506	chr1:72507246-72507247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539244361	chr1:72507259-72507260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72500600-72512600	Weak transcription	Pancreas	Pancrea
2	chr1:72507800-72508000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72507800-72508200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:72507800-72508200	Enhancers	Dnd41	blood
5	chr1:72507800-72508200	Enhancers	HUVEC	blood vessel
6	chr1:72507800-72508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:72508000-72508400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:72508400-72508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:72508800-72510800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:72510800-72511200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:72512200-72512800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:72512600-72513200	Enhancers	Colon Smooth Muscle	Colon

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