Variant report

Variant	nsv539729
Chromosome Location	chr8:115611957-115656200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:115648075..115653566-chr8:115653938..115656968,8	MCF-7	breast:
2	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
3	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:
4	chr8:115648075..115653566-chr8:115653938..115656968,8	MCF-7	breast:

Extended variants
information (count: 183 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs577825399	chr8:115618040-115618041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183751940	chr8:115618080-115618081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144477307	chr8:115618103-115618104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573169804	chr8:115618111-115618112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572437655	chr8:115618175-115618176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542703091	chr8:115618196-115618197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187609015	chr8:115618199-115618200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576134928	chr8:115618202-115618203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112457230	chr8:115618261-115618262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541834757	chr8:115618271-115618272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543571049	chr8:115618293-115618294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6993330	chr8:115618369-115618370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74354813	chr8:115618374-115618375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191487452	chr8:115618377-115618378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73358878	chr8:115618389-115618390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547280308	chr8:115619653-115619654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537242185	chr8:115619662-115619663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111355662	chr8:115619709-115619710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565928176	chr8:115619738-115619739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367959404	chr8:115619743-115619744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568790013	chr8:115619801-115619802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200541617	chr8:115619839-115619840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371885956	chr8:115619862-115619863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554517386	chr8:115619882-115619883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569746717	chr8:115619924-115619925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572290574	chr8:115619937-115619938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139965742	chr8:115620017-115620018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536024299	chr8:115620040-115620041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551230970	chr8:115620081-115620082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541572572	chr8:115620099-115620100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553305527	chr8:115620170-115620171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187506183	chr8:115620174-115620175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75135555	chr8:115620230-115620231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76047310	chr8:115620237-115620238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531375948	chr8:115620257-115620258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185501792	chr8:115620259-115620260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564949068	chr8:115620266-115620267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374465804	chr8:115620269-115620270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56655686	chr8:115620397-115620398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563200409	chr8:115621691-115621692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530728782	chr8:115621795-115621796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552514326	chr8:115621817-115621818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563733755	chr8:115621901-115621902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544548255	chr8:115621983-115621984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184043075	chr8:115641642-115641643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16886186	chr8:115641645-115641646	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369518137	chr8:115641666-115641667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544214494	chr8:115641677-115641678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189393522	chr8:115641724-115641725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533035704	chr8:115641731-115641732	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115618000-115618400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:115619600-115620400	Enhancers	Dnd41	blood
3	chr8:115619800-115620000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:115619800-115620200	Enhancers	Colon Smooth Muscle	Colon
5	chr8:115621600-115622000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:115641600-115642000	Enhancers	Fetal Lung	lung
7	chr8:115649000-115649600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:115649000-115649600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:115649000-115649800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:115649000-115649800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr8:115649000-115650000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:115649000-115650000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr8:115649200-115649600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:115649200-115649600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:115649200-115649600	Active TSS	Hela-S3	cervix
16	chr8:115649200-115649800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr8:115649200-115649800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:115649200-115649800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:115649800-115650200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:115653600-115654000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:115653600-115654600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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