Variant report

Variant	nsv551115
Chromosome Location	chr10:58913651-58963458
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	chr10:58957814..58958334-chr4:116457976..116458496,2	MCF-7	breast:
2	chr10:58887742..58890502-chr10:58913371..58916213,2	MCF-7	breast:

Extended variants
information (count: 1987 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1987 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181294902	chr10:58921226-58921227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573039453	chr10:58921256-58921257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574441903	chr10:58921274-58921275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184981494	chr10:58921279-58921280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74402708	chr10:58921283-58921284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138082753	chr10:58921329-58921330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562888841	chr10:58921330-58921331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs118114052	chr10:58921339-58921340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551545289	chr10:58921356-58921357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566741342	chr10:58921362-58921363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201500544	chr10:58921379-58921380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7091186	chr10:58921389-58921390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7091214	chr10:58921445-58921446	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs567607049	chr10:58921475-58921476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190852420	chr10:58921514-58921515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140057735	chr10:58921517-58921518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188788126	chr10:58921551-58921552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539534259	chr10:58921561-58921562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192506934	chr10:58921585-58921586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557857313	chr10:58921592-58921593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183399809	chr10:58921597-58921598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540412322	chr10:58921626-58921627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555740475	chr10:58921646-58921647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573877061	chr10:58921674-58921675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187608107	chr10:58921718-58921719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370863906	chr10:58921826-58921827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562912017	chr10:58921864-58921865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543567425	chr10:58921899-58921900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117717788	chr10:58921900-58921901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545122104	chr10:58921937-58921938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7091651	chr10:58921944-58921945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs3107504	chr10:58921954-58921955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113243979	chr10:58921997-58921998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567471646	chr10:58922017-58922018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373810705	chr10:58922039-58922040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533361027	chr10:58922072-58922073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551802379	chr10:58922073-58922074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566705495	chr10:58922085-58922086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201460778	chr10:58922086-58922087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184232953	chr10:58922286-58922287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141903346	chr10:58922296-58922297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs80047852	chr10:58922369-58922370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386744189	chr10:58922409-58922410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76662546	chr10:58922419-58922420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1394112	chr10:58922421-58922422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549528041	chr10:58922449-58922450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80234415	chr10:58922528-58922529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555605920	chr10:58922546-58922547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573715841	chr10:58922564-58922565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138557593	chr10:58922583-58922584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58921200-58921400	Enhancers	Rectal Mucosa Donor 29	rectum
2	chr10:58921200-58923200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr10:58921400-58923000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr10:58923000-58923200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr10:58923200-58924400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:58923400-58925000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:58924400-58924600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr10:58924800-58926200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr10:58925000-58925600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:58925000-58925800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr10:58925000-58926400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:58925200-58925600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:58925400-58925600	ZNF genes & repeats	Lung	lung
14	chr10:58925400-58925800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:58925400-58926000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr10:58925600-58926000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:58925800-58926600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr10:58926000-58926400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr10:58926400-58927200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:58926600-58927800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:58927200-58928200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:58927800-58928800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:58928200-58929000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr10:58930200-58959200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:58932400-58932800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:58932800-58933000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr10:58933000-58947200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:58936400-58937200	Enhancers	Fetal Brain Female	brain
29	chr10:58945800-58946200	Enhancers	Fetal Kidney	kidney
30	chr10:58945800-58946400	Enhancers	Fetal Lung	lung
31	chr10:58947800-58949200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr10:58952400-58968400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:58959000-58960000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:58959200-58960200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr10:58960200-58966600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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