Variant report

Variant	nsv947276
Chromosome Location	chr1:80275089-80280161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 150 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563135051	chr1:80275866-80275867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187077249	chr1:80275884-80275885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568460632	chr1:80275921-80275922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550171863	chr1:80275948-80275949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151299049	chr1:80275950-80275951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74742799	chr1:80275959-80275960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547493058	chr1:80275976-80275977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76736338	chr1:80275977-80275978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539541151	chr1:80275989-80275990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551776972	chr1:80276041-80276042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12023565	chr1:80276051-80276052	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191522689	chr1:80276115-80276116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1935388	chr1:80276150-80276151	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112206639	chr1:80276237-80276238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534769881	chr1:80276338-80276339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185300181	chr1:80276444-80276445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79894792	chr1:80276452-80276453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190180893	chr1:80276456-80276457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193090869	chr1:80276523-80276524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563310741	chr1:80276610-80276611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12041468	chr1:80276623-80276624	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114459308	chr1:80276625-80276626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562002530	chr1:80276765-80276766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529532858	chr1:80276789-80276790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185692889	chr1:80276847-80276848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11162826	chr1:80276868-80276869	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs533498878	chr1:80276931-80276932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140525037	chr1:80276955-80276956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570056227	chr1:80276983-80276984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72935709	chr1:80277035-80277036	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549309378	chr1:80277061-80277062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114294778	chr1:80277103-80277104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12024572	chr1:80277151-80277152	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74096867	chr1:80277163-80277164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114127162	chr1:80277164-80277165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189378703	chr1:80277190-80277191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11577790	chr1:80277272-80277273	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs575203939	chr1:80277302-80277303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542296668	chr1:80277337-80277338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554139093	chr1:80277349-80277350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180948600	chr1:80277380-80277381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72935710	chr1:80277400-80277401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552070822	chr1:80277401-80277402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185170289	chr1:80277432-80277433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528560779	chr1:80277457-80277458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370078853	chr1:80277460-80277461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548215130	chr1:80277477-80277478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568071269	chr1:80277531-80277532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531116826	chr1:80277591-80277592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17458827	chr1:80277614-80277615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80275800-80276000	Enhancers	NHLF	lung
2	chr1:80275800-80278000	Enhancers	HUVEC	blood vessel
3	chr1:80276000-80278600	Weak transcription	NHLF	lung
4	chr1:80276600-80277800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:80276600-80278400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:80276800-80277400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:80276800-80277400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:80276800-80278400	Enhancers	NHEK	skin
9	chr1:80276800-80279000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:80277200-80277600	Enhancers	HSMMtube	muscle
11	chr1:80277200-80277600	Enhancers	NH-A	brain
12	chr1:80277200-80277800	Enhancers	HMEC	breast
13	chr1:80277600-80278400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:80278400-80280600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:80278600-80279000	Enhancers	NHLF	lung

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