Variant report

Variant	nsv947125
Chromosome Location	chr1:105001329-105026964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:105016188..105019008-chr1:105023747..105026676,2	K562	blood:
2	chr1:105021052..105022674-chr1:105034468..105036725,2	K562	blood:
3	chr1:105016188..105019008-chr1:105023747..105026676,2	K562	blood:

Extended variants
information (count: 394 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:394 , 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	rs376693613	chr1:105003403-105003404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371063366	chr1:105003426-105003427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs186122927	chr1:105003429-105003430	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs540567129	chr1:105003431-105003432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375136007	chr1:105003437-105003438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs564536830	chr1:105003438-105003439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs532007421	chr1:105003502-105003503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138688405	chr1:105003515-105003516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562618808	chr1:105003556-105003557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529801935	chr1:105003569-105003570	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376701809	chr1:105003582-105003583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs72685442	chr1:105003585-105003586	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2317191	chr1:105003621-105003622	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552524922	chr1:105003636-105003637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs4503356	chr1:105003643-105003644	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191798960	chr1:105003648-105003649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182080575	chr1:105003688-105003689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs575698970	chr1:105003692-105003693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370077386	chr1:105003699-105003700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2121959	chr1:105003714-105003715	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2317192	chr1:105003719-105003720	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs77693542	chr1:105003797-105003798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145591419	chr1:105003801-105003802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565272474	chr1:105003854-105003855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200712020	chr1:105003871-105003872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs576396377	chr1:105003890-105003891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs186055057	chr1:105003906-105003907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs562402427	chr1:105003911-105003912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs560749472	chr1:105003912-105003913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs529786426	chr1:105003945-105003946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs548025209	chr1:105003971-105003972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs574358703	chr1:105003978-105003979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12120100	chr1:105003988-105003989	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs12409917	chr1:105003989-105003990	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536190697	chr1:105003990-105003991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548345549	chr1:105003993-105003994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552463702	chr1:105004005-105004006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368271014	chr1:105004007-105004008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs149468831	chr1:105004030-105004031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190766845	chr1:105004055-105004056	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs2084441	chr1:105004066-105004067	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536749832	chr1:105004081-105004082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369881720	chr1:105004089-105004090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114530148	chr1:105004095-105004096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34631728	chr1:105004105-105004106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143878372	chr1:105004113-105004114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs2084442	chr1:105004155-105004156	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs577128045	chr1:105004170-105004171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs386634147	chr1:105004207-105004208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs374322766	chr1:105004208-105004209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:105003400-105005600	ZNF genes & repeats	HepG2	liver
2	chr1:105005600-105006200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:105008400-105011200	ZNF genes & repeats	HepG2	liver
4	chr1:105010000-105010200	Flanking Active TSS	GM12878-XiMat	blood
5	chr1:105010200-105010400	Active TSS	GM12878-XiMat	blood
6	chr1:105010200-105010600	Active TSS	Liver	Liver
7	chr1:105010400-105010600	Enhancers	GM12878-XiMat	blood
8	chr1:105010600-105010800	Flanking Active TSS	Liver	Liver
9	chr1:105010800-105011200	Enhancers	Liver	Liver
10	chr1:105018400-105019200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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