Variant report

Variant	nsv547218
Chromosome Location	chr1:105111443-105134662
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	chr1:105128438..105130994-chr1:105132786..105134781,2	K562	blood:
2	chr1:105128438..105130994-chr1:105132786..105134781,2	K562	blood:

Extended variants
information (count: 388 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144067370	chr1:105127412-105127413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188547358	chr1:105127416-105127417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145969659	chr1:105127440-105127441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560525068	chr1:105127512-105127513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533044379	chr1:105127514-105127515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551663733	chr1:105127521-105127522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79932255	chr1:105127535-105127536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546391373	chr1:105127542-105127543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560527256	chr1:105127543-105127544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556687310	chr1:105127565-105127566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369369844	chr1:105127580-105127581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180836830	chr1:105127583-105127584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11584387	chr1:105127598-105127599	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77502394	chr1:105127637-105127638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11589483	chr1:105127649-105127650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368759208	chr1:105127672-105127673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74461261	chr1:105127740-105127741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550878380	chr1:105127774-105127775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112978148	chr1:105127803-105127804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9435314	chr1:105127905-105127906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575631628	chr1:105127915-105127916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114517457	chr1:105127944-105127945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139839778	chr1:105127964-105127965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72650243	chr1:105127965-105127966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77793358	chr1:105127967-105127968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369402861	chr1:105127982-105127983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533153923	chr1:105128001-105128002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548316945	chr1:105128002-105128003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570004596	chr1:105128086-105128087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566567521	chr1:105128162-105128163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141239692	chr1:105128167-105128168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531723522	chr1:105128172-105128173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374659766	chr1:105128188-105128189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79222097	chr1:105128233-105128234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568489137	chr1:105128234-105128235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570496909	chr1:105128253-105128254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185242229	chr1:105128278-105128279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547882303	chr1:105128280-105128281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1118861	chr1:105128348-105128349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540074285	chr1:105128366-105128367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs151080250	chr1:105128385-105128386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140007441	chr1:105128491-105128492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369969897	chr1:105128492-105128493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537368350	chr1:105128505-105128506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554905171	chr1:105128521-105128522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189269436	chr1:105128532-105128533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573590902	chr1:105128538-105128539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371409590	chr1:105128547-105128548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559444837	chr1:105128551-105128552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182231678	chr1:105128586-105128587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:105127400-105127800	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:105127800-105134800	Weak transcription	Primary B cells from peripheral blood	blood

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