Variant report

Variant	nsv823702
Chromosome Location	chr6:55609185-55609934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182593168	chr6:55609192-55609193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541428308	chr6:55609194-55609195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73453327	chr6:55609269-55609270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533207984	chr6:55609301-55609302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79227228	chr6:55609335-55609336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563468038	chr6:55609361-55609362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192010635	chr6:55609393-55609394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548798784	chr6:55609432-55609433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185633093	chr6:55609448-55609449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188859545	chr6:55609452-55609453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528215250	chr6:55609480-55609481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192348710	chr6:55609502-55609503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372266765	chr6:55609517-55609518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184658050	chr6:55609532-55609533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188153696	chr6:55609564-55609565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375228026	chr6:55609583-55609584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371524091	chr6:55609632-55609633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9475391	chr6:55609633-55609634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536044932	chr6:55609643-55609644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530445486	chr6:55609678-55609679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72868818	chr6:55609679-55609680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572569756	chr6:55609685-55609686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191808342	chr6:55609686-55609687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558092382	chr6:55609735-55609736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577973269	chr6:55609738-55609739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567934763	chr6:55609744-55609745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9357878	chr6:55609770-55609771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9475392	chr6:55609799-55609800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142410966	chr6:55609827-55609828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9475393	chr6:55609855-55609856	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559123660	chr6:55609868-55609869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183937855	chr6:55609883-55609884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150866331	chr6:55609893-55609894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189003890	chr6:55609903-55609904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55608800-55622000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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