Variant report

Variant	nsv891346
Chromosome Location	chr8:114983288-115027676
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:114384438..114385053-chr8:114992865..114993457,2	MCF-7	breast:
2	chr8:115023596..115026093-chr8:115027615..115029686,2	K562	blood:
3	chr8:115023596..115026093-chr8:115027615..115029686,2	K562	blood:

Extended variants
information (count: 542 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566436195	chr8:114991004-114991005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528798207	chr8:114991015-114991016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4147331	chr8:114991022-114991023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556396017	chr8:114991024-114991025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112129488	chr8:114991038-114991039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537635032	chr8:114991041-114991042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141597014	chr8:114991094-114991095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567767201	chr8:114991095-114991096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150717307	chr8:114991110-114991111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552957436	chr8:114991119-114991120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191194209	chr8:114991176-114991177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544945340	chr8:114991191-114991192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372617442	chr8:114991219-114991220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139094842	chr8:114991243-114991244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575379048	chr8:114991292-114991293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77962181	chr8:114991339-114991340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560886940	chr8:114991352-114991353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529806923	chr8:114991431-114991432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540284926	chr8:114991434-114991435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560237899	chr8:114991435-114991436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182844299	chr8:114991447-114991448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552137821	chr8:114991450-114991451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571886645	chr8:114991477-114991478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531081829	chr8:114991481-114991482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551169445	chr8:114991524-114991525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567712644	chr8:114991557-114991558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536751618	chr8:114991570-114991571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553045332	chr8:114991612-114991613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566563712	chr8:114991664-114991665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538629591	chr8:114991700-114991701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558503353	chr8:114991710-114991711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575513033	chr8:114991785-114991786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142414392	chr8:114991787-114991788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577028747	chr8:114992402-114992403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563532416	chr8:114992456-114992457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545872464	chr8:114992466-114992467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562505823	chr8:114992504-114992505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78056758	chr8:114992508-114992509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145583554	chr8:114992527-114992528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561403598	chr8:114992552-114992553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530304172	chr8:114992580-114992581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs66730677	chr8:114992586-114992587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191992420	chr8:114992597-114992598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560274758	chr8:114992600-114992601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs67915622	chr8:114992604-114992605	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142741239	chr8:114992655-114992656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185173080	chr8:114992668-114992669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188239331	chr8:114992697-114992698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548491205	chr8:114992712-114992713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559426055	chr8:114992714-114992715	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	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	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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:114991000-114991800	Enhancers	Dnd41	blood
2	chr8:114992400-114993200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:114992400-114993200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:114992400-114994600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:114992600-114993000	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:114992600-114993000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:114992600-114993000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:114992600-114993000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:114992600-114993600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:114992600-114993600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:114992600-114993600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:114992600-114993600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:114992600-114993600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:114993000-114993200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr8:114993000-114994000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:114993200-114993400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:114993400-114993600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:114993600-114993800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:114993800-114994200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:114994000-114994600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:114994200-114994600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr8:115001800-115002200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:115002000-115002200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr8:115002000-115002200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:115002200-115003200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:115002200-115005800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:115002200-115006000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr8:115003200-115003400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:115005800-115006200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:115005800-115006400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:115006000-115006400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr8:115006000-115006400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:115006000-115006400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:115018000-115018400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:115018000-115018600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr8:115018000-115018600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:115018000-115018800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr8:115018000-115018800	Active TSS	H1 Cell Line	embryonic stem cell
39	chr8:115018000-115018800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:115018000-115018800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr8:115018000-115018800	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr8:115018000-115018800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr8:115018000-115018800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr8:115018000-115018800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:115018000-115018800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:115018000-115019000	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:115018000-115019200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr8:115018200-115018800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:115018600-115018800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
50	chr8:115018800-115019000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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