Variant report

Variant	nsv882713
Chromosome Location	chr5:111399885-111445356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111400696..111402728-chr5:111496476..111498260,2	K562	blood:
2	chr5:111427178..111429315-chr5:111442008..111443800,2	K562	blood:
3	chr5:111398563..111400381-chr5:111401714..111404187,2	K562	blood:
4	chr5:111427178..111429315-chr5:111442008..111443800,2	K562	blood:
5	chr5:111398563..111400381-chr5:111401714..111404187,2	K562	blood:

Variant related genes	Relation type
ENSG00000224032	chromatin interactions
ENSG00000238363	chromatin interactions

Extended variants
information (count: 1193 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1193 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1389312	chr5:111399885-111399886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186510503	chr5:111399903-111399904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1389311	chr5:111399920-111399921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191408931	chr5:111399934-111399935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542961719	chr5:111400015-111400016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555236010	chr5:111400048-111400049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180886714	chr5:111400089-111400090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543587646	chr5:111400100-111400101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187500	chr5:111400106-111400107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1389310	chr5:111400151-111400152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185148009	chr5:111400167-111400168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77672784	chr5:111400181-111400182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530095020	chr5:111400196-111400197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144602480	chr5:111400202-111400203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368245256	chr5:111400203-111400204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191087844	chr5:111400205-111400206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115705962	chr5:111400248-111400249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368300935	chr5:111400296-111400297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs33976280	chr5:111400338-111400339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77547720	chr5:111400347-111400348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372536006	chr5:111400349-111400350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531574622	chr5:111400357-111400358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183276651	chr5:111400384-111400385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571441175	chr5:111400410-111400411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538743194	chr5:111400432-111400433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75342749	chr5:111400439-111400440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565581399	chr5:111400442-111400443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372526954	chr5:111400499-111400500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554991968	chr5:111400604-111400605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535822601	chr5:111400610-111400611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs30294	chr5:111400612-111400613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147884463	chr5:111400624-111400625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200552497	chr5:111400656-111400657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568929124	chr5:111400657-111400658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2067349	chr5:111400658-111400659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539509674	chr5:111400701-111400702	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs140431687	chr5:111400718-111400719	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs76338388	chr5:111400757-111400758	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs7704327	chr5:111400776-111400777	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188956130	chr5:111400822-111400823	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370171044	chr5:111400825-111400826	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs531662816	chr5:111400899-111400900	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs560952497	chr5:111400916-111400917	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143565040	chr5:111400944-111400945	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565085844	chr5:111400963-111400964	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557833310	chr5:111401006-111401007	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs154082	chr5:111401031-111401032	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150433812	chr5:111401032-111401033	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs565747746	chr5:111401037-111401038	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs76436778	chr5:111401065-111401066	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
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
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111399400-111400600	Enhancers	Fetal Muscle Leg	muscle
2	chr5:111399400-111401600	Enhancers	Fetal Stomach	stomach
3	chr5:111399800-111400600	Weak transcription	Fetal Brain Male	brain
4	chr5:111400200-111402600	Enhancers	Fetal Lung	lung
5	chr5:111401200-111401400	Enhancers	Fetal Brain Male	brain
6	chr5:111401600-111402000	Weak transcription	Fetal Stomach	stomach
7	chr5:111402000-111402600	Enhancers	Fetal Stomach	stomach
8	chr5:111402200-111402400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:111403000-111403200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:111405600-111406000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:111405600-111406000	Enhancers	NHEK	skin
12	chr5:111405600-111406600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr5:111406600-111407000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:111412600-111412800	Enhancers	GM12878-XiMat	blood
15	chr5:111412800-111413400	Flanking Active TSS	GM12878-XiMat	blood
16	chr5:111413000-111413400	Enhancers	Dnd41	blood
17	chr5:111413000-111413600	Enhancers	NHDF-Ad	bronchial
18	chr5:111419200-111420000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:111419400-111420000	Enhancers	Fetal Lung	lung
20	chr5:111419800-111420400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:111423000-111423400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:111423600-111429000	Weak transcription	Pancreas	Pancrea
23	chr5:111429000-111429200	ZNF genes & repeats	Aorta	Aorta
24	chr5:111429000-111429200	ZNF genes & repeats	Pancreas	Pancrea
25	chr5:111429200-111443400	Weak transcription	Aorta	Aorta
26	chr5:111429200-111456200	Weak transcription	Pancreas	Pancrea
27	chr5:111433200-111433400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:111433400-111433600	Enhancers	Osteobl	bone
29	chr5:111433400-111433800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:111433400-111434000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:111433400-111434000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:111433600-111434000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:111433600-111434000	Flanking Active TSS	Osteobl	bone
34	chr5:111433800-111434000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:111434000-111434200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:111434000-111434400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:111439000-111439600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:111441000-111441200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:111442400-111443000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:111442800-111443000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr5:111443000-111444800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:111443200-111445800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:111443400-111444000	Enhancers	Aorta	Aorta
44	chr5:111444800-111445200	Enhancers	Gastric	stomach
45	chr5:111444800-111446400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr5:111445000-111445200	Enhancers	Fetal Heart	heart
47	chr5:111445000-111445400	Enhancers	Left Ventricle	heart
48	chr5:111445000-111445600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:111445000-111445600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:111445000-111445600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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