Variant report

Variant	nsv823242
Chromosome Location	chr1:76900890-76903328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532554817	chr1:76900932-76900933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544317862	chr1:76900936-76900937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562593215	chr1:76900969-76900970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530043028	chr1:76901046-76901047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142294252	chr1:76901123-76901124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566853885	chr1:76901150-76901151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529978208	chr1:76901158-76901159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528402941	chr1:76901173-76901174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373086790	chr1:76901177-76901178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546856779	chr1:76901198-76901199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181760066	chr1:76901200-76901201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376320145	chr1:76901260-76901261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187147740	chr1:76901268-76901269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557095953	chr1:76901288-76901289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189986693	chr1:76901306-76901307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181495452	chr1:76901326-76901327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186278845	chr1:76901351-76901352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572778190	chr1:76901451-76901452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4478861	chr1:76901499-76901500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539003647	chr1:76901506-76901507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143563506	chr1:76901543-76901544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139562319	chr1:76901544-76901545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111418233	chr1:76901545-76901546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79881281	chr1:76901549-76901550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72024640	chr1:76901550-76901551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78510445	chr1:76901555-76901556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76971940	chr1:76901557-76901558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113118954	chr1:76901672-76901673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544356504	chr1:76901686-76901687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562731390	chr1:76901725-76901726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530177508	chr1:76901796-76901797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371637339	chr1:76901797-76901798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200503829	chr1:76901818-76901819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542285929	chr1:76901840-76901841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4245652	chr1:76901935-76901936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4949719	chr1:76901965-76901966	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34260402	chr1:76901994-76901995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546599820	chr1:76902067-76902068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537395016	chr1:76902069-76902070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571520687	chr1:76902073-76902074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532357149	chr1:76902271-76902272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61771526	chr1:76902287-76902288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116676074	chr1:76902296-76902297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536382888	chr1:76902315-76902316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150823778	chr1:76902335-76902336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566362399	chr1:76902378-76902379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575986008	chr1:76902412-76902413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190099784	chr1:76902434-76902435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182363798	chr1:76902441-76902442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370795912	chr1:76902490-76902491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76898800-76901600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:76900000-76905200	Weak transcription	Fetal Lung	lung
3	chr1:76900200-76901400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:76900200-76901400	Weak transcription	Fetal Kidney	kidney
5	chr1:76901400-76901600	Enhancers	Fetal Kidney	kidney
6	chr1:76901600-76902000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:76901600-76902200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:76901800-76902000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:76901800-76902000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:76901800-76902000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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