Variant report

Variant	nsv872082
Chromosome Location	chr1:105057555-105090576
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	chr1:105059139..105061952-chr1:105062553..105064235,2	K562	blood:
2	chr1:105059139..105061952-chr1:105062553..105064235,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10494018	chr1:105080325-105080326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559609910	chr1:105080331-105080332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142662566	chr1:105080338-105080339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199683092	chr1:105080406-105080407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201498327	chr1:105080466-105080467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370081445	chr1:105080467-105080468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566764574	chr1:105080488-105080489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143878393	chr1:105080498-105080499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10494017	chr1:105080539-105080540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367830568	chr1:105080552-105080553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188332925	chr1:105080562-105080563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57295950	chr1:105080587-105080588	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1448383	chr1:105080599-105080600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550208285	chr1:105081617-105081618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569943552	chr1:105081630-105081631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534380848	chr1:105081651-105081652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528914725	chr1:105081659-105081660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547489714	chr1:105081703-105081704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191436731	chr1:105081709-105081710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72650240	chr1:105081729-105081730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72650241	chr1:105081751-105081752	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569797353	chr1:105081762-105081763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11184197	chr1:105081773-105081774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs11184198	chr1:105081793-105081794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575151075	chr1:105081821-105081822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17021661	chr1:105081861-105081862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs200629558	chr1:105081898-105081899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12022925	chr1:105081913-105081914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558586221	chr1:105081924-105081925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572195871	chr1:105081927-105081928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146389338	chr1:105081940-105081941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138258858	chr1:105081959-105081960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576568338	chr1:105081971-105081972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17021664	chr1:105081994-105081995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562269959	chr1:105082043-105082044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529643859	chr1:105082050-105082051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180845305	chr1:105082118-105082119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559432203	chr1:105082151-105082152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61813842	chr1:105082169-105082170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565029041	chr1:105082174-105082175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535475051	chr1:105082175-105082176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17021667	chr1:105082196-105082197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529984400	chr1:105082199-105082200	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:105080200-105080600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:105081600-105082200	Enhancers	HepG2	liver
3	chr1:105081800-105082200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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