Variant report

Variant	nsv820240
Chromosome Location	chr8:124916620-124920526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124906436..124908763-chr8:124916387..124918093,2	K562	blood:
2	chr8:124920123..124922608-chr8:124925471..124927774,2	MCF-7	breast:
3	chr8:124918718..124920943-chr8:124922678..124925068,2	MCF-7	breast:
4	chr8:124915045..124918415-chr8:124921775..124925187,3	MCF-7	breast:

Extended variants
information (count: 179 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs182729291	chr8:124916624-124916625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186625515	chr8:124916625-124916626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566223871	chr8:124916631-124916632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191429120	chr8:124916635-124916636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370592640	chr8:124916642-124916643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183844101	chr8:124916653-124916654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537034364	chr8:124916658-124916659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557351719	chr8:124916692-124916693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189212286	chr8:124916788-124916789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143712400	chr8:124916791-124916792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538962697	chr8:124916916-124916917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11780028	chr8:124916922-124916923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148126464	chr8:124916984-124916985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555763455	chr8:124917018-124917019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115419269	chr8:124917051-124917052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4504619	chr8:124917054-124917055	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113694092	chr8:124917062-124917063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574613958	chr8:124917069-124917070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543049203	chr8:124917117-124917118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185179083	chr8:124917126-124917127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576773168	chr8:124917143-124917144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546432707	chr8:124917144-124917145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559644704	chr8:124917167-124917168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528630273	chr8:124917193-124917194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548411149	chr8:124917194-124917195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140824297	chr8:124917203-124917204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537790109	chr8:124917238-124917239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189007921	chr8:124917248-124917249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531078794	chr8:124917281-124917282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550687722	chr8:124917299-124917300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150149767	chr8:124917306-124917307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539452062	chr8:124917334-124917335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191526428	chr8:124917364-124917365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4242348	chr8:124917390-124917391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138906678	chr8:124917411-124917412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183996059	chr8:124917421-124917422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188143953	chr8:124917469-124917470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142915201	chr8:124917471-124917472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181004346	chr8:124917476-124917477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556784026	chr8:124917480-124917481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112909058	chr8:124917492-124917493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560265629	chr8:124917538-124917539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147343222	chr8:124917540-124917541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137915657	chr8:124917545-124917546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545244657	chr8:124917560-124917561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111668190	chr8:124917563-124917564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368609127	chr8:124917609-124917610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149471312	chr8:124917633-124917634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575767425	chr8:124917703-124917704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531018336	chr8:124917712-124917713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
Carcinoma ex pleomorphic adenoma	18828159	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
Congenital diaphragmatic hernia	21085971	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
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	18160780	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124915800-124916800	Enhancers	Adipose Nuclei	Adipose
2	chr8:124916400-124918000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:124916800-124918200	Weak transcription	Adipose Nuclei	Adipose
4	chr8:124918000-124919000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:124918200-124918600	Enhancers	Gastric	stomach
6	chr8:124918200-124919000	Enhancers	Adipose Nuclei	Adipose
7	chr8:124918600-124919200	Weak transcription	Gastric	stomach
8	chr8:124919000-124919400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:124919000-124923600	Weak transcription	Adipose Nuclei	Adipose
10	chr8:124919200-124919800	Enhancers	K562	blood
11	chr8:124919200-124920200	Enhancers	Gastric	stomach
12	chr8:124919400-124919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:124919600-124920200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:124919600-124921400	Enhancers	Stomach Mucosa	stomach
15	chr8:124919600-124923200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:124920000-124920800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr8:124920200-124921200	Weak transcription	Gastric	stomach
18	chr8:124920200-124923000	Weak transcription	Rectal Mucosa Donor 31	rectum

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