Variant report

Variant	nsv437471
Chromosome Location	chr5:111682654-111691924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111678130..111679875-chr5:111682477..111684112,2	K562	blood:
2	chr5:111685601..111687919-chr5:111689516..111692384,2	K562	blood:
3	chr5:111683856..111685558-chr5:111688927..111690455,2	MCF-7	breast:
4	chr5:111681506..111684177-chr5:111711327..111713137,2	K562	blood:
5	chr5:111685601..111687919-chr5:111689516..111692384,2	K562	blood:
6	chr5:111683856..111685558-chr5:111688927..111690455,2	MCF-7	breast:
7	chr5:111672466..111674712-chr5:111689508..111691131,2	K562	blood:

Extended variants
information (count: 391 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:391 , 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	rs1019743	chr5:111682654-111682655	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs557483486	chr5:111682667-111682668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549271623	chr5:111682672-111682673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567864875	chr5:111682686-111682687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568169120	chr5:111682804-111682805	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149818411	chr5:111682807-111682808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1560061	chr5:111682843-111682844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs572010255	chr5:111682846-111682847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs10035153	chr5:111682932-111682933	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553805505	chr5:111682984-111682985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs139739915	chr5:111683040-111683041	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144000737	chr5:111683094-111683095	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs554436933	chr5:111683111-111683112	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146408618	chr5:111683196-111683197	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs543244777	chr5:111683253-111683254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558038496	chr5:111683254-111683255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4958040	chr5:111683277-111683278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116627177	chr5:111683316-111683317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4958041	chr5:111683317-111683318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs112458636	chr5:111683326-111683327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544957591	chr5:111683328-111683329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116310604	chr5:111683332-111683333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527750111	chr5:111683381-111683382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549478670	chr5:111683406-111683407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567683358	chr5:111683433-111683434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531927275	chr5:111683472-111683473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115665330	chr5:111683494-111683495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539348902	chr5:111683504-111683505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs66521031	chr5:111683514-111683515	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140912442	chr5:111683522-111683523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144722451	chr5:111683526-111683527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554632004	chr5:111683541-111683542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576099665	chr5:111683544-111683545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115200558	chr5:111683566-111683567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558336493	chr5:111683576-111683577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576689266	chr5:111683582-111683583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540942698	chr5:111683584-111683585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560258984	chr5:111683613-111683614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151164030	chr5:111683627-111683628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57004301	chr5:111683645-111683646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528854152	chr5:111683646-111683647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs821751	chr5:111683797-111683798	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543767068	chr5:111683801-111683802	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs2162739	chr5:111683864-111683865	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186452518	chr5:111683892-111683893	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs190893526	chr5:111683893-111683894	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532825027	chr5:111683910-111683911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs140333621	chr5:111683922-111683923	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566276056	chr5:111683941-111683942	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536232703	chr5:111683973-111683974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Prostate cancer	22341455	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111637400-111684600	Weak transcription	Aorta	Aorta
2	chr5:111669800-111683600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:111675000-111682800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:111675600-111687800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:111676200-111689000	Weak transcription	Lung	lung
6	chr5:111678400-111683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:111678400-111684600	Weak transcription	Right Ventricle	heart
8	chr5:111678400-111689000	Weak transcription	Gastric	stomach
9	chr5:111678600-111683400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:111678600-111683600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:111678600-111683600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:111678600-111683800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:111678600-111695600	Weak transcription	Pancreas	Pancrea
14	chr5:111678800-111684200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:111679000-111683800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:111679400-111682800	Weak transcription	Right Atrium	heart
17	chr5:111681200-111685000	Weak transcription	Ovary	ovary
18	chr5:111682000-111682800	Enhancers	Left Ventricle	heart
19	chr5:111682400-111683200	Flanking Active TSS	GM12878-XiMat	blood
20	chr5:111682600-111683000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:111682600-111683800	Enhancers	Spleen	Spleen
22	chr5:111682600-111687800	Enhancers	Fetal Heart	heart
23	chr5:111682800-111685000	Weak transcription	Left Ventricle	heart
24	chr5:111682800-111685200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:111682800-111685800	Enhancers	Right Atrium	heart
26	chr5:111683000-111683800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:111683000-111685200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:111683200-111683800	Enhancers	GM12878-XiMat	blood
29	chr5:111683400-111683800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:111683400-111684800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:111683400-111685000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:111683400-111685000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:111683400-111685000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr5:111683400-111685600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:111683600-111684000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:111683600-111684000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:111683600-111684000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:111683600-111684200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:111683600-111684400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:111683600-111684800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:111683600-111685400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:111683800-111684600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:111683800-111684800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:111683800-111684800	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:111683800-111684800	Flanking Active TSS	GM12878-XiMat	blood
46	chr5:111683800-111685000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:111683800-111685400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:111683800-111689000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:111683800-111689400	Weak transcription	Spleen	Spleen
50	chr5:111684000-111684200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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