Variant report

Variant	nsv514583
Chromosome Location	chr10:90943012-90947812
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	chr10:90807595..90810361-chr10:90944518..90946449,2	MCF-7	breast:

Extended variants
information (count: 168 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs187744719	chr10:90943089-90943090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560692496	chr10:90943130-90943131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536553487	chr10:90943217-90943218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376528702	chr10:90943221-90943222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73368248	chr10:90943303-90943304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75001166	chr10:90943320-90943321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113958570	chr10:90943367-90943368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558694223	chr10:90943376-90943377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149829662	chr10:90943402-90943403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368356025	chr10:90943406-90943407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540692466	chr10:90943464-90943465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558946453	chr10:90943474-90943475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147793403	chr10:90943504-90943505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567548062	chr10:90943531-90943532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561325626	chr10:90943559-90943560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561468356	chr10:90943561-90943562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532031174	chr10:90943587-90943588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4399251	chr10:90943634-90943635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs34146103	chr10:90943636-90943637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565441694	chr10:90943664-90943665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4617498	chr10:90943713-90943714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185584338	chr10:90943817-90943818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7476946	chr10:90943821-90943822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533640701	chr10:90943875-90943876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138276444	chr10:90943878-90943879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547021197	chr10:90943889-90943890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566085332	chr10:90943930-90943931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188513753	chr10:90943950-90943951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4282908	chr10:90943967-90943968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs4282909	chr10:90943989-90943990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569878473	chr10:90944000-90944001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12772500	chr10:90944004-90944005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558489801	chr10:90944039-90944040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77288729	chr10:90944054-90944055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139587862	chr10:90944068-90944069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192941891	chr10:90944073-90944074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145023729	chr10:90944088-90944089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541509811	chr10:90944144-90944145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563275043	chr10:90944159-90944160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184812594	chr10:90944186-90944187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551420614	chr10:90944188-90944189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556543406	chr10:90944198-90944199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544064103	chr10:90944215-90944216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4269843	chr10:90944216-90944217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs188824169	chr10:90944267-90944268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73368250	chr10:90944294-90944295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559932494	chr10:90944307-90944308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530195523	chr10:90944317-90944318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535627100	chr10:90944344-90944345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147572334	chr10:90944407-90944408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90942600-90943800	Enhancers	NHLF	lung
2	chr10:90942600-90944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:90942800-90944000	Enhancers	NHDF-Ad	bronchial
4	chr10:90943000-90943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:90943000-90944200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:90943200-90944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:90943400-90943800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:90943600-90943800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:90943600-90944000	Enhancers	HMEC	breast
10	chr10:90943600-90945000	Enhancers	Osteobl	bone
11	chr10:90943800-90944200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr10:90943800-90945400	Weak transcription	NHLF	lung
13	chr10:90944000-90945200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:90944400-90949400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr10:90945200-90945800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:90945200-90946000	Enhancers	Stomach Smooth Muscle	stomach
17	chr10:90945400-90945600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:90945400-90945800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr10:90945400-90945800	Enhancers	Hela-S3	cervix
20	chr10:90945400-90946600	Enhancers	Fetal Lung	lung
21	chr10:90945600-90945800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr10:90945600-90945800	Enhancers	NHLF	lung
23	chr10:90945600-90946000	Enhancers	Colon Smooth Muscle	Colon
24	chr10:90945600-90946000	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr10:90946200-90947200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr10:90946400-90946800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr10:90946400-90947000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr10:90946400-90947000	Enhancers	H9 Cell Line	embryonic stem cell

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