Variant report

Variant	nsv1022205
Chromosome Location	chr8:115602682-115642614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
2	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
3	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs567898561	chr8:115602731-115602732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190800471	chr8:115602783-115602784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561136883	chr8:115602802-115602803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73343646	chr8:115602864-115602865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550030173	chr8:115602977-115602978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187276695	chr8:115603063-115603064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538881950	chr8:115603119-115603120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146970355	chr8:115603124-115603125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565985764	chr8:115603147-115603148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551906181	chr8:115603161-115603162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536556601	chr8:115603188-115603189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371725168	chr8:115603206-115603207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555307752	chr8:115603263-115603264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147609946	chr8:115603333-115603334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57749487	chr8:115603342-115603343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142205649	chr8:115603407-115603408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72688155	chr8:115603416-115603417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs115654577	chr8:115603428-115603429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191788668	chr8:115603508-115603509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145993216	chr8:115603537-115603538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542575239	chr8:115603546-115603547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376601136	chr8:115603556-115603557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183134971	chr8:115603571-115603572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7000026	chr8:115603659-115603660	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs543883435	chr8:115603686-115603687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187145026	chr8:115603698-115603699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372109055	chr8:115603743-115603744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532471905	chr8:115603792-115603793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547545437	chr8:115603812-115603813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11357590	chr8:115603814-115603815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191918381	chr8:115603874-115603875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536637161	chr8:115603902-115603903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370386236	chr8:115603967-115603968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530300110	chr8:115604057-115604058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535321333	chr8:115604079-115604080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548627049	chr8:115604083-115604084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182714981	chr8:115604103-115604104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112499212	chr8:115604125-115604126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556218316	chr8:115604202-115604203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187753909	chr8:115604222-115604223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192378384	chr8:115604223-115604224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111959122	chr8:115604232-115604233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141352974	chr8:115604274-115604275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185622950	chr8:115604288-115604289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150182587	chr8:115604316-115604317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190496449	chr8:115604323-115604324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148629868	chr8:115604324-115604325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373939162	chr8:115604371-115604372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553633724	chr8:115604406-115604407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576375868	chr8:115604469-115604470	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115601800-115604200	Weak transcription	Dnd41	blood
2	chr8:115604200-115606400	Enhancers	Dnd41	blood
3	chr8:115618000-115618400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:115619600-115620400	Enhancers	Dnd41	blood
5	chr8:115619800-115620000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:115619800-115620200	Enhancers	Colon Smooth Muscle	Colon
7	chr8:115621600-115622000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:115641600-115642000	Enhancers	Fetal Lung	lung

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