Variant report

Variant	nsv965560
Chromosome Location	chr5:101344416-101380772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:101361879..101363839-chr5:101365059..101366576,2	MCF-7	breast:
2	chr5:101361879..101363839-chr5:101365059..101366576,2	MCF-7	breast:
3	chr17:27716905..27717691-chr5:101351042..101351795,2	MCF-7	breast:
4	chr5:101341869..101344693-chr5:101345059..101347272,2	MCF-7	breast:
5	chr5:101341869..101344693-chr5:101345059..101347272,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160551	chromatin interactions
ENSG00000263719	chromatin interactions

Extended variants
information (count: 369 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531469509	chr5:101344440-101344441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549598400	chr5:101344456-101344457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569479163	chr5:101344492-101344493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536448423	chr5:101344495-101344496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79145471	chr5:101344520-101344521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141882867	chr5:101344528-101344529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534196651	chr5:101344566-101344567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13174627	chr5:101344648-101344649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577156080	chr5:101344699-101344700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539716971	chr5:101344703-101344704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186511651	chr5:101344744-101344745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3846608	chr5:101344757-101344758	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529982267	chr5:101351045-101351046	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182459113	chr5:101351054-101351055	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7723396	chr5:101351062-101351063	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs151117333	chr5:101351068-101351069	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561715230	chr5:101351110-101351111	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs187185442	chr5:101351182-101351183	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528886811	chr5:101351193-101351194	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570478837	chr5:101351213-101351214	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112542016	chr5:101351242-101351243	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191247502	chr5:101351248-101351249	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550511482	chr5:101351253-101351254	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs569228575	chr5:101351272-101351273	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs116812636	chr5:101351274-101351275	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs554578399	chr5:101351307-101351308	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs141075506	chr5:101351309-101351310	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs72774369	chr5:101351329-101351330	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553656539	chr5:101351353-101351354	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558786799	chr5:101351356-101351357	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs577228919	chr5:101351404-101351405	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs544091443	chr5:101351431-101351432	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10592299	chr5:101351441-101351442	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs556367426	chr5:101351483-101351484	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574816263	chr5:101351530-101351531	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542131931	chr5:101351538-101351539	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113579600	chr5:101351610-101351611	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs149848982	chr5:101351670-101351671	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545740954	chr5:101351691-101351692	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564038375	chr5:101351747-101351748	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs531405231	chr5:101351774-101351775	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146795694	chr5:101351778-101351779	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571338754	chr5:101354059-101354060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72774375	chr5:101354133-101354134	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs12153045	chr5:101354134-101354135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs548724559	chr5:101354149-101354150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565993227	chr5:101354172-101354173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567462948	chr5:101354209-101354210	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6860838	chr5:101354219-101354220	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551253465	chr5:101354220-101354221	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101343400-101344800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:101343600-101344600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:101354000-101354800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:101354000-101355000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:101354200-101354400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:101354200-101354800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:101354200-101354800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:101354400-101354600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr5:101354400-101355000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:101354600-101354800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr5:101354600-101355000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:101354600-101355200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:101354800-101355800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:101366600-101367200	Enhancers	Fetal Intestine Large	intestine
15	chr5:101367200-101367600	Weak transcription	Fetal Intestine Large	intestine
16	chr5:101367600-101368000	Enhancers	Fetal Intestine Large	intestine
17	chr5:101372200-101373200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:101372200-101373600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:101372400-101373000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:101372600-101373000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:101372600-101373000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:101372600-101373000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:101372600-101373000	Enhancers	Adipose Nuclei	Adipose
24	chr5:101372600-101373000	Enhancers	Fetal Lung	lung
25	chr5:101373000-101373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:101373000-101375600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:101373000-101375800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:101373200-101376000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:101373400-101373600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:101373600-101375800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:101375600-101376000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:101375600-101376400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:101375600-101376600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:101375800-101376600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:101375800-101376600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:101376000-101376400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:101376000-101376400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:101376000-101376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:101376000-101376400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:101376000-101376400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:101376000-101376400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:101376000-101376400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:101376000-101376400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:101376400-101376600	Enhancers	HUES48 Cell Line	embryonic stem cell

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