Variant report

Variant	nsv820237
Chromosome Location	chr8:69327804-69344263
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	chr8:69338439..69340713-chr8:69760510..69763451,2	MCF-7	breast:

Extended variants
information (count: 593 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117168348	chr8:69327812-69327813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527728829	chr8:69327842-69327843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558985996	chr8:69327862-69327863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182306561	chr8:69327883-69327884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76952191	chr8:69327959-69327960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368621644	chr8:69327977-69327978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548782751	chr8:69327980-69327981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113940374	chr8:69327993-69327994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372651508	chr8:69328008-69328009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551694305	chr8:69328059-69328060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571410038	chr8:69328085-69328086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185496059	chr8:69328088-69328089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553459523	chr8:69328141-69328142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140072624	chr8:69328154-69328155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536384846	chr8:69328194-69328195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72664940	chr8:69328200-69328201	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576760018	chr8:69328204-69328205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190184595	chr8:69328212-69328213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565583874	chr8:69328213-69328214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572606028	chr8:69328257-69328258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541437917	chr8:69328299-69328300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560912976	chr8:69328317-69328318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530022372	chr8:69328394-69328395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143707230	chr8:69328435-69328436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115839944	chr8:69328491-69328492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs367657686	chr8:69328502-69328503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182780266	chr8:69328509-69328510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369373205	chr8:69328564-69328565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574465816	chr8:69328584-69328585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371768186	chr8:69328676-69328677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551239375	chr8:69328687-69328688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570243866	chr8:69328716-69328717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114481691	chr8:69328737-69328738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533810393	chr8:69328739-69328740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35528191	chr8:69328747-69328748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555758382	chr8:69328748-69328749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542111042	chr8:69328752-69328753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144248592	chr8:69328755-69328756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147768404	chr8:69328774-69328775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398008208	chr8:69328784-69328785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188553189	chr8:69328789-69328790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111573347	chr8:69328829-69328830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192936826	chr8:69328862-69328863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536247932	chr8:69328912-69328913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142956678	chr8:69328975-69328976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183900768	chr8:69329001-69329002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539227324	chr8:69329002-69329003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34225325	chr8:69329033-69329034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs12550291	chr8:69329034-69329035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78536627	chr8:69329059-69329060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69317200-69342600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:69325200-69332400	Weak transcription	Aorta	Aorta
3	chr8:69332400-69332600	Enhancers	Aorta	Aorta
4	chr8:69332600-69333000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:69332600-69333800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:69332600-69334000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:69332600-69334200	Weak transcription	Aorta	Aorta
8	chr8:69333000-69333400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:69333000-69334000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:69333000-69334000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:69333000-69334000	Enhancers	HUVEC	blood vessel
12	chr8:69333000-69334000	Enhancers	NHEK	skin
13	chr8:69333200-69333600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:69333200-69333800	Enhancers	NH-A	brain
15	chr8:69333400-69334200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:69333400-69334200	Enhancers	HMEC	breast
17	chr8:69333600-69334200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:69334200-69334400	Enhancers	Aorta	Aorta
19	chr8:69334400-69335000	Weak transcription	Aorta	Aorta
20	chr8:69340800-69341600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:69341600-69342200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:69342200-69343800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:69342600-69343000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:69342800-69364800	Weak transcription	Aorta	Aorta
25	chr8:69343000-69345600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links