Variant report

Variant	nsv945970
Chromosome Location	chr1:79300251-79301641
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	chr1:79299275..79301209-chr1:79305174..79307511,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17102288	chr1:79300263-79300264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17102289	chr1:79300291-79300292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs74091605	chr1:79300301-79300302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181796564	chr1:79300347-79300348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78764802	chr1:79300408-79300409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542289023	chr1:79300421-79300422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547396124	chr1:79300425-79300426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560546955	chr1:79300515-79300516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567431735	chr1:79300518-79300519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190430105	chr1:79300576-79300577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145906241	chr1:79300583-79300584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72552678	chr1:79300613-79300614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34288018	chr1:79300614-79300615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12401934	chr1:79300637-79300638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150184595	chr1:79300684-79300685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180687824	chr1:79300695-79300696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535323112	chr1:79300707-79300708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114817960	chr1:79300710-79300711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535432302	chr1:79300760-79300761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547019463	chr1:79300827-79300828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3059833	chr1:79300885-79300886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6680564	chr1:79300939-79300940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539112902	chr1:79300963-79300964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557453585	chr1:79301014-79301015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75142876	chr1:79301114-79301115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558167507	chr1:79301120-79301121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149134115	chr1:79301129-79301130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575057616	chr1:79301144-79301145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143258838	chr1:79301179-79301180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148324220	chr1:79301194-79301195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572492086	chr1:79301198-79301199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143113559	chr1:79301247-79301248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571573893	chr1:79301329-79301330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78280188	chr1:79301392-79301393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186142314	chr1:79301413-79301414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75096079	chr1:79301422-79301423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191384726	chr1:79301427-79301428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529187481	chr1:79301449-79301450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547305170	chr1:79301483-79301484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181315965	chr1:79301514-79301515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539050501	chr1:79301524-79301525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78465007	chr1:79301525-79301526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74091606	chr1:79301537-79301538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145913353	chr1:79301539-79301540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556514599	chr1:79301541-79301542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79297000-79300400	Enhancers	HSMM	muscle
2	chr1:79297000-79300400	Enhancers	HUVEC	blood vessel
3	chr1:79299000-79302400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:79299200-79302600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:79299200-79302600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:79299600-79300400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:79299600-79302600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:79299800-79302400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:79299800-79302400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:79300000-79302400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:79300000-79302400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:79300200-79301400	Weak transcription	NH-A	brain
13	chr1:79300200-79301600	Weak transcription	NHDF-Ad	bronchial
14	chr1:79300200-79302400	Weak transcription	Osteobl	bone
15	chr1:79300400-79302400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:79300400-79302800	Weak transcription	HUVEC	blood vessel
17	chr1:79300400-79305600	Weak transcription	HSMM	muscle
18	chr1:79301400-79301600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:79301600-79302400	Enhancers	NHDF-Ad	bronchial
20	chr1:79301600-79302600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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