Variant report

Variant	esv11317
Chromosome Location	chr5:61501951-61555756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61553876..61556282-chr5:61576708..61578826,2	K562	blood:
2	chr5:61501155..61502895-chr5:61508041..61509648,2	MCF-7	breast:
3	chr5:61554817..61557688-chr5:61629619..61631265,2	K562	blood:
4	chr5:61539663..61541258-chr5:61560288..61563274,2	K562	blood:
5	chr5:61541758..61543641-chr5:61554002..61556238,2	K562	blood:
6	chr5:61439485..61439993-chr5:61501806..61502567,2	MCF-7	breast:
7	chr5:61507042..61508881-chr5:61509033..61511948,2	K562	blood:
8	chr5:61501169..61503856-chr5:61511488..61513182,2	K562	blood:
9	chr5:61495766..61498313-chr5:61500945..61503625,2	MCF-7	breast:
10	chr5:61541758..61543641-chr5:61554002..61556238,2	K562	blood:
11	chr5:61501155..61502895-chr5:61508041..61509648,2	MCF-7	breast:
12	chr5:61513831..61515618-chr5:61821739..61824122,2	K562	blood:
13	chr5:61503538..61505582-chr5:61507119..61508825,2	K562	blood:
14	chr5:61551611..61555704-chr5:61555776..61558862,4	K562	blood:
15	chr5:61520015..61520644-chr5:61649667..61650292,2	MCF-7	breast:
16	chr5:61539494..61542163-chr5:61560247..61562435,2	K562	blood:
17	chr5:61507042..61508881-chr5:61509033..61511948,2	K562	blood:
18	chr5:61501169..61503856-chr5:61511488..61513182,2	K562	blood:
19	chr5:61549033..61550848-chr5:61552778..61554762,2	K562	blood:
20	chr5:61503538..61505582-chr5:61507119..61508825,2	K562	blood:
21	chr5:61519364..61519935-chr5:61649639..61650264,2	MCF-7	breast:
22	chr5:61549033..61550848-chr5:61552778..61554762,2	K562	blood:
23	chr5:61550007..61554674-chr5:61558868..61565665,10	K562	blood:

No data

Extended variants
information (count: 1855 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1855 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147907751	chr5:61502014-61502015	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs527837738	chr5:61502046-61502047	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs541227649	chr5:61502048-61502049	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs560587578	chr5:61502079-61502080	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs116405722	chr5:61502109-61502110	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs192895229	chr5:61502128-61502129	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs182681168	chr5:61502145-61502146	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs116358404	chr5:61502146-61502147	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs570060295	chr5:61502161-61502162	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs531497408	chr5:61502222-61502223	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs187802474	chr5:61502238-61502239	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs571569037	chr5:61502241-61502242	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs533948784	chr5:61502256-61502257	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs554026319	chr5:61502270-61502271	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs2547995	chr5:61502290-61502291	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs2662536	chr5:61502292-61502293	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs376547870	chr5:61502308-61502309	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs114325124	chr5:61502317-61502318	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs564385966	chr5:61502341-61502342	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs536378058	chr5:61502349-61502350	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs191285458	chr5:61502350-61502351	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs559547364	chr5:61502386-61502387	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs201353856	chr5:61502391-61502392	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs59072343	chr5:61502395-61502396	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184993857	chr5:61502417-61502418	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs189274658	chr5:61502425-61502426	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs528457297	chr5:61502426-61502427	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs555564407	chr5:61502448-61502449	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs192182204	chr5:61502469-61502470	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs199572822	chr5:61502544-61502545	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs541191344	chr5:61502578-61502579	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs55947343	chr5:61502596-61502597	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs541432666	chr5:61502683-61502684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528058349	chr5:61502732-61502733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74705662	chr5:61502826-61502827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543942962	chr5:61502836-61502837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113288848	chr5:61502851-61502852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559736691	chr5:61502901-61502902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116819043	chr5:61502941-61502942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375379731	chr5:61503002-61503003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75460936	chr5:61503044-61503045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552627352	chr5:61503101-61503102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571533256	chr5:61503138-61503139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530988306	chr5:61503139-61503140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185235721	chr5:61503236-61503237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547595099	chr5:61503240-61503241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189768676	chr5:61503273-61503274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549586915	chr5:61503280-61503281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535959593	chr5:61503304-61503305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556181396	chr5:61503308-61503309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61501000-61503200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:61501000-61503600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:61501200-61504200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:61502000-61502200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:61502000-61502200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:61502000-61502200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr5:61502000-61502400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:61502000-61502400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:61502000-61502400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:61502000-61502400	Enhancers	Brain Substantia Nigra	brain
11	chr5:61502000-61502400	Flanking Bivalent TSS/Enh	K562	blood
12	chr5:61502000-61502600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:61502200-61502400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:61502200-61502600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:61502200-61502600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:61502200-61502600	Active TSS	Hela-S3	cervix
17	chr5:61502400-61502600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:61502400-61502600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:61502400-61503600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr5:61502400-61503600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:61502400-61504200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:61502600-61503800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:61502600-61503800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:61502600-61504000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr5:61502800-61504000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:61503200-61504200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:61503200-61505200	Enhancers	HepG2	liver
28	chr5:61503600-61503800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:61503600-61504200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:61503600-61504400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr5:61503600-61505000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:61503800-61504200	Enhancers	A549	lung
33	chr5:61503800-61504400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:61503800-61504400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:61503800-61504600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:61503800-61504800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:61503800-61505000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:61504000-61504400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:61504000-61504600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:61504000-61504600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:61504200-61504400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr5:61504200-61504400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:61504200-61504600	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:61504200-61505000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:61504400-61504600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:61504400-61505000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:61508600-61508800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:61508600-61508800	Enhancers	K562	blood
49	chr5:61510000-61510200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:61510400-61511000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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