Variant report

Variant	nsv971608
Chromosome Location	chr8:131838878-131845214
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	chr8:131814409..131815488-chr8:131840319..131841657,4	MCF-7	breast:
2	chr8:131761821..131762590-chr8:131840325..131841251,2	MCF-7	breast:

Extended variants
information (count: 187 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552074485	chr8:131840202-131840203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570378229	chr8:131840219-131840220	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531143163	chr8:131840235-131840236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551616386	chr8:131840283-131840284	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs548938811	chr8:131840322-131840323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs374253931	chr8:131840326-131840327	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs183639977	chr8:131840373-131840374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188005330	chr8:131840397-131840398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs377642303	chr8:131840431-131840432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181477072	chr8:131840488-131840489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538469979	chr8:131840537-131840538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556805128	chr8:131840549-131840550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575482843	chr8:131840556-131840557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546776999	chr8:131840579-131840580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs542583416	chr8:131840581-131840582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555729063	chr8:131840587-131840588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573992357	chr8:131840591-131840592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541498053	chr8:131840597-131840598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs147604061	chr8:131840611-131840612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs186478836	chr8:131840635-131840636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs545601481	chr8:131840639-131840640	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563900659	chr8:131840675-131840676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs572314836	chr8:131840702-131840703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs189779342	chr8:131840711-131840712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs181877559	chr8:131840801-131840802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs149086542	chr8:131840806-131840807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528076818	chr8:131840824-131840825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539655738	chr8:131840836-131840837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs546263405	chr8:131840880-131840881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs143063790	chr8:131840893-131840894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs185913347	chr8:131841026-131841027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556716877	chr8:131841149-131841150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs569003807	chr8:131841170-131841171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs536538808	chr8:131841365-131841366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs202032640	chr8:131841366-131841367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191077581	chr8:131841373-131841374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs148224153	chr8:131841374-131841375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs535031257	chr8:131841404-131841405	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs183265958	chr8:131841405-131841406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs578127885	chr8:131841411-131841412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545562501	chr8:131841428-131841429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141142684	chr8:131841433-131841434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557623100	chr8:131841448-131841449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs575756015	chr8:131841483-131841484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543256512	chr8:131841492-131841493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145276483	chr8:131841621-131841622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs1509843	chr8:131841661-131841662	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185401148	chr8:131841705-131841706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564569762	chr8:131841721-131841722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571213303	chr8:131841727-131841728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	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
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131840200-131843000	ZNF genes & repeats	Liver	Liver
2	chr8:131840400-131840800	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr8:131840600-131841600	ZNF genes & repeats	Brain Hippocampus Middle	brain
4	chr8:131840600-131841800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr8:131840800-131841200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr8:131841400-131841600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr8:131841400-131843800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:131842600-131858400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:131843800-131858200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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