Variant report

Variant	nsv871959
Chromosome Location	chr1:78992179-78999796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 316 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3766343	chr1:78992179-78992180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs473027	chr1:78992202-78992203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147357041	chr1:78992234-78992235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573221481	chr1:78992273-78992274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376638493	chr1:78992282-78992283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555298323	chr1:78992315-78992316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139494761	chr1:78992342-78992343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145111457	chr1:78992371-78992372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144967944	chr1:78992399-78992400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528407805	chr1:78992435-78992436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369243413	chr1:78992436-78992437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572524812	chr1:78992514-78992515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35438037	chr1:78992537-78992538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564438811	chr1:78992538-78992539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192164867	chr1:78992595-78992596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183675085	chr1:78992632-78992633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562186019	chr1:78992680-78992681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372819644	chr1:78992756-78992757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529487497	chr1:78992774-78992775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556437650	chr1:78992792-78992793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs668005	chr1:78992817-78992818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565448985	chr1:78992841-78992842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539115166	chr1:78992925-78992926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188444674	chr1:78992988-78992989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368779120	chr1:78993131-78993132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569285325	chr1:78993161-78993162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536977653	chr1:78993171-78993172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201506632	chr1:78993174-78993175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142404642	chr1:78993220-78993221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573799398	chr1:78993263-78993264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534818293	chr1:78993266-78993267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553163050	chr1:78993286-78993287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561901256	chr1:78993318-78993319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572587979	chr1:78993382-78993383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546298626	chr1:78993394-78993395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530655859	chr1:78993408-78993409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564507661	chr1:78993414-78993415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540644131	chr1:78993421-78993422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576496532	chr1:78993467-78993468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35067586	chr1:78993469-78993470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191600767	chr1:78993479-78993480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144444582	chr1:78993484-78993485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562411425	chr1:78993503-78993504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371743452	chr1:78993511-78993512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547988657	chr1:78993529-78993530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1322929	chr1:78993600-78993601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559494560	chr1:78993621-78993622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532889566	chr1:78993626-78993627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551046398	chr1:78993630-78993631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551043425	chr1:78993643-78993644	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
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78977600-78993200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:78988800-78995800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:78993200-78994000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:78993200-79002000	Weak transcription	NHDF-Ad	bronchial
5	chr1:78994000-79002000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:78995800-78998000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78998000-79001800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:78999200-78999600	Enhancers	Brain Anterior Caudate	brain

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