Variant report

Variant	nsv528328
Chromosome Location	chr1:79411764-79412408
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	chr1:79411840..79414575-chr1:79858123..79860401,2	K562	blood:
2	chr1:79410821..79413576-chr1:79414533..79416679,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2035725	chr1:79411764-79411765	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80233432	chr1:79411820-79411821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2035724	chr1:79411828-79411829	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs554387628	chr1:79411857-79411858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572715866	chr1:79411858-79411859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372474121	chr1:79411866-79411867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546525515	chr1:79411868-79411869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs723898	chr1:79411888-79411889	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs369215955	chr1:79411894-79411895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576655507	chr1:79411910-79411911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6675156	chr1:79411918-79411919	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373493278	chr1:79411928-79411929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200539312	chr1:79411950-79411951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11162579	chr1:79411951-79411952	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541091913	chr1:79411961-79411962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs41313381	chr1:79411968-79411969	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532915062	chr1:79412020-79412021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117741748	chr1:79412041-79412042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200973848	chr1:79412068-79412069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185392778	chr1:79412096-79412097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199976603	chr1:79412099-79412100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528123910	chr1:79412104-79412105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376613673	chr1:79412111-79412112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370778799	chr1:79412114-79412115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569313723	chr1:79412159-79412160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76695428	chr1:79412163-79412164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530698298	chr1:79412175-79412176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12752044	chr1:79412207-79412208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567120141	chr1:79412213-79412214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534720862	chr1:79412227-79412228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553060670	chr1:79412250-79412251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11162580	chr1:79412289-79412290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372405517	chr1:79412303-79412304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12405700	chr1:79412322-79412323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs75721048	chr1:79412349-79412350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182246476	chr1:79412357-79412358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187296244	chr1:79412360-79412361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34556678	chr1:79412398-79412399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12409126	chr1:79412408-79412409	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79409800-79412200	Strong transcription	HUVEC	blood vessel
2	chr1:79410200-79414800	Weak transcription	Hela-S3	cervix
3	chr1:79412200-79418400	Weak transcription	HUVEC	blood vessel

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