Variant report

Variant	nsv971606
Chromosome Location	chr8:130025407-130032870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 302 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:302 , 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	rs193052023	chr8:130025442-130025443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142676735	chr8:130025514-130025515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545049779	chr8:130025515-130025516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532224982	chr8:130025519-130025520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537236367	chr8:130025525-130025526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550384848	chr8:130025572-130025573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151018164	chr8:130025628-130025629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530171060	chr8:130025728-130025729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12675236	chr8:130025759-130025760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566904507	chr8:130025765-130025766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533931225	chr8:130025815-130025816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558872076	chr8:130025828-130025829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571061684	chr8:130025830-130025831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538504884	chr8:130025848-130025849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73708004	chr8:130025913-130025914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369707489	chr8:130025949-130025950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140815836	chr8:130026017-130026018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575064456	chr8:130026069-130026070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557228346	chr8:130026081-130026082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531195235	chr8:130026084-130026085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4302810	chr8:130026099-130026100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188887660	chr8:130026105-130026106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561482790	chr8:130026112-130026113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs193150764	chr8:130026113-130026114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4371972	chr8:130026141-130026142	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564868378	chr8:130026158-130026159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1866980	chr8:130026181-130026182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138561971	chr8:130026213-130026214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183707721	chr8:130026259-130026260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529838979	chr8:130026286-130026287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140286508	chr8:130026296-130026297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566861443	chr8:130026318-130026319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527739833	chr8:130026376-130026377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552312177	chr8:130026454-130026455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141191017	chr8:130026472-130026473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386729938	chr8:130026478-130026479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3957251	chr8:130026479-130026480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550536433	chr8:130026525-130026526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188420940	chr8:130026552-130026553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145386967	chr8:130026577-130026578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7835239	chr8:130026579-130026580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536062201	chr8:130026589-130026590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541812556	chr8:130026674-130026675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7835514	chr8:130026699-130026700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs137886819	chr8:130026734-130026735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558304371	chr8:130026753-130026754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576410686	chr8:130026754-130026755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544149938	chr8:130026819-130026820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149464463	chr8:130026826-130026827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537311792	chr8:130026847-130026848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130019800-130028200	Weak transcription	Dnd41	blood
2	chr8:130021800-130027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:130025200-130035800	Weak transcription	Fetal Thymus	thymus
4	chr8:130028200-130031800	Strong transcription	Dnd41	blood
5	chr8:130031800-130035800	Weak transcription	Dnd41	blood

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