Variant report

Variant	nsv947183
Chromosome Location	chr1:56217174-56235507
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	chr1:56221833..56223709-chr6:26204838..26207511,2	K562	blood:

Variant related genes	Relation type
ENSG00000198518	chromatin interactions

Extended variants
information (count: 417 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:417 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550224534	chr1:56217190-56217191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147077868	chr1:56217239-56217240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147721062	chr1:56217240-56217241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184715969	chr1:56217253-56217254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568252277	chr1:56217260-56217261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114809051	chr1:56217282-56217283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35070645	chr1:56217313-56217314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189036720	chr1:56217342-56217343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570502108	chr1:56217349-56217350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563643320	chr1:56217350-56217351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142587901	chr1:56217371-56217372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181446056	chr1:56217474-56217475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186650987	chr1:56217492-56217493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191040324	chr1:56217494-56217495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555743544	chr1:56217496-56217497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572688333	chr1:56217538-56217539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529077694	chr1:56217548-56217549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542459536	chr1:56217588-56217589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146902422	chr1:56217599-56217600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72671453	chr1:56217610-56217611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535304484	chr1:56217624-56217625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533497846	chr1:56217763-56217764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543899628	chr1:56217773-56217774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1165501	chr1:56217786-56217787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575187911	chr1:56217796-56217797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529260536	chr1:56217805-56217806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528023054	chr1:56217813-56217814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548477122	chr1:56217834-56217835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542762644	chr1:56217895-56217896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568306135	chr1:56217954-56217955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527582875	chr1:56217976-56217977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148386105	chr1:56218032-56218033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35369766	chr1:56218059-56218060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112114335	chr1:56218101-56218102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150407914	chr1:56218107-56218108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12098020	chr1:56218140-56218141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181026432	chr1:56218209-56218210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564685521	chr1:56218237-56218238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185858128	chr1:56218280-56218281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535119863	chr1:56218296-56218297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191063010	chr1:56218335-56218336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572677575	chr1:56218374-56218375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183191861	chr1:56218391-56218392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558081340	chr1:56218438-56218439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377745736	chr1:56218470-56218471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543940310	chr1:56218519-56218520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61774782	chr1:56218540-56218541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377460870	chr1:56218553-56218554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186109239	chr1:56218565-56218566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142860176	chr1:56218570-56218571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56214400-56219600	Weak transcription	NHDF-Ad	bronchial
2	chr1:56215200-56217200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:56216800-56219000	Weak transcription	Hela-S3	cervix
4	chr1:56217000-56217400	Enhancers	Fetal Lung	lung
5	chr1:56217400-56217600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:56219000-56220000	Enhancers	Hela-S3	cervix
7	chr1:56219600-56219800	Enhancers	NHDF-Ad	bronchial
8	chr1:56220000-56221000	Weak transcription	Hela-S3	cervix
9	chr1:56220600-56222200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:56221000-56221200	Enhancers	Hela-S3	cervix
11	chr1:56221000-56222800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:56222200-56222600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:56222600-56225800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:56222800-56226200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:56225800-56226200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:56226000-56226600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:56226200-56226600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:56232200-56234600	Enhancers	Fetal Muscle Leg	muscle
19	chr1:56232400-56234000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:56233000-56234000	Enhancers	Aorta	Aorta
21	chr1:56233000-56234800	Enhancers	Fetal Lung	lung
22	chr1:56234800-56237800	Weak transcription	Fetal Lung	lung

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