Variant report

Variant	nsv882651
Chromosome Location	chr5:105056118-105151678
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:105087530..105089094-chr6:26156464..26158015,2	K562	blood:
2	chr5:105069835..105071621-chr5:105082502..105084277,2	K562	blood:
3	chr5:105069835..105071621-chr5:105082502..105084277,2	K562	blood:
4	chr5:104726359..104728666-chr5:105131284..105132821,2	K562	blood:
5	chr5:105110281..105111988-chr5:105184711..105186655,2	K562	blood:

Variant related genes	Relation type
ENSG00000168298	chromatin interactions

Extended variants
information (count: 1149 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1149 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567516179	chr5:105061833-105061834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530974523	chr5:105061859-105061860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551061065	chr5:105061869-105061870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192041527	chr5:105061889-105061890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6879626	chr5:105061892-105061893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546720237	chr5:105061948-105061949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566856804	chr5:105062017-105062018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368533966	chr5:105062027-105062028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550519746	chr5:105062033-105062034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571483661	chr5:105062040-105062041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77320117	chr5:105062049-105062050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557113311	chr5:105062069-105062070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531490998	chr5:105062078-105062079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567288940	chr5:105062141-105062142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536326712	chr5:105062164-105062165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552719122	chr5:105062198-105062199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368579701	chr5:105074824-105074825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116052639	chr5:105074826-105074827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569876783	chr5:105074849-105074850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545417614	chr5:105074864-105074865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35640528	chr5:105074883-105074884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565809629	chr5:105074913-105074914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534699548	chr5:105074954-105074955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149651997	chr5:105074959-105074960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192896176	chr5:105074963-105074964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543761652	chr5:105074965-105074966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544303641	chr5:105075012-105075013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539967042	chr5:105075039-105075040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376287390	chr5:105075047-105075048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542858023	chr5:105075068-105075069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559496339	chr5:105075085-105075086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72777136	chr5:105075121-105075122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs372556296	chr5:105075143-105075144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184962389	chr5:105075160-105075161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545459240	chr5:105075191-105075192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565139614	chr5:105075209-105075210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530895878	chr5:105075211-105075212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550986511	chr5:105075219-105075220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561314681	chr5:105075287-105075288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187370142	chr5:105075354-105075355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376722436	chr5:105075422-105075423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116365759	chr5:105075442-105075443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192196670	chr5:105075458-105075459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147295792	chr5:105075470-105075471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28670372	chr5:105075516-105075517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184780456	chr5:105075518-105075519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571162557	chr5:105075559-105075560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536687798	chr5:105075563-105075564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369480074	chr5:105075635-105075636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574019976	chr5:105075663-105075664	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105061800-105062200	Enhancers	Fetal Muscle Trunk	muscle
2	chr5:105074800-105075000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:105075000-105075600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:105075600-105076200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:105076000-105076400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:105076000-105076400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:105079800-105080600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:105085800-105089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:105089600-105090000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:105089600-105090000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:105096400-105098000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:105098000-105098400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:105102800-105103800	Enhancers	HUVEC	blood vessel
14	chr5:105102800-105104000	Enhancers	Hela-S3	cervix
15	chr5:105105800-105117000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:105118600-105119000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:105123200-105123800	Enhancers	HUVEC	blood vessel
18	chr5:105125200-105125600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:105127200-105127600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:105140200-105141000	Weak transcription	Aorta	Aorta
21	chr5:105142000-105143400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:105143600-105144000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:105146200-105146800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:105147800-105148200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:105147800-105148600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:105148200-105152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:105148600-105153000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links