Variant report

Variant	nsv462377
Chromosome Location	chr5:106159095-106215439
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:
2	chr17:56709318..56712109-chr5:106181952..106184880,2	MCF-7	breast:
3	chr5:106185229..106189035-chr5:106199699..106201875,3	MCF-7	breast:
4	chr5:106210052..106213021-chr5:107006073..107010056,3	MCF-7	breast:
5	chr5:106186315..106188102-chr5:107007477..107009162,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFNA5-2	chr5:106179762-106179915	XLOC_004951
2	lnc-EFNA5-7	chr5:106181999-106182077	l_2991_chr5:106178796-106374642_testes
3	lnc-EFNA5-7	chr5:106178797-106179146	l_2991_chr5:106178796-106374642_testes

No data

Variant related genes	Relation type
ENSG00000184349	chromatin interactions
BCL2L11	miRNA target sites

Extended variants
information (count: 1320 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1320 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs963330	chr5:106159095-106159096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577760700	chr5:106159106-106159107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370899767	chr5:106159165-106159166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543342192	chr5:106159170-106159171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs296215	chr5:106159185-106159186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573567336	chr5:106159195-106159196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113487821	chr5:106159238-106159239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34920470	chr5:106159250-106159251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189656758	chr5:106159279-106159280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561890595	chr5:106159283-106159284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145587535	chr5:106159293-106159294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115319062	chr5:106159296-106159297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181519660	chr5:106159302-106159303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564729130	chr5:106159325-106159326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74686759	chr5:106159333-106159334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550362783	chr5:106159378-106159379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570383926	chr5:106159415-106159416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116033915	chr5:106159422-106159423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549009165	chr5:106159523-106159524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28718505	chr5:106159614-106159615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs534763917	chr5:106159622-106159623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1438249	chr5:106159636-106159637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557548052	chr5:106159736-106159737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571455892	chr5:106159821-106159822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536866106	chr5:106159840-106159841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186210809	chr5:106159870-106159871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148850127	chr5:106159881-106159882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542502084	chr5:106159914-106159915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202058580	chr5:106159939-106159940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557354007	chr5:106159948-106159949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572326338	chr5:106159978-106159979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527565113	chr5:106159992-106159993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541547615	chr5:106159996-106159997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111308019	chr5:106159997-106159998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10079955	chr5:106160029-106160030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs72784319	chr5:106160034-106160035	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs12659968	chr5:106160050-106160051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189423159	chr5:106160055-106160056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537894856	chr5:106160066-106160067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544033993	chr5:106160119-106160120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143474493	chr5:106160121-106160122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182065594	chr5:106160137-106160138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549410684	chr5:106160188-106160189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12657386	chr5:106160198-106160199	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528061366	chr5:106160205-106160206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551325462	chr5:106160206-106160207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551168395	chr5:106160290-106160291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114296180	chr5:106160415-106160416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187183765	chr5:106160458-106160459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190861262	chr5:106160503-106160504	Enhancers Weak transcription	n/a	n/a	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106159000-106160600	Weak transcription	A549	lung
2	chr5:106159800-106161000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:106160600-106160800	Enhancers	A549	lung
4	chr5:106160600-106162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:106160600-106163200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:106160800-106161200	Weak transcription	A549	lung
7	chr5:106160800-106161400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:106160800-106161600	Enhancers	NHDF-Ad	bronchial
9	chr5:106161000-106161600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:106161200-106161600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:106161200-106161600	Enhancers	A549	lung
12	chr5:106161400-106162400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:106161600-106163400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:106162600-106162800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:106167200-106167400	Enhancers	Aorta	Aorta
16	chr5:106167200-106167800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:106167200-106168000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:106167400-106167600	Weak transcription	Aorta	Aorta
19	chr5:106167800-106168800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr5:106168800-106169000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr5:106168800-106169600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:106169000-106169400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:106169000-106169600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr5:106169200-106169600	Enhancers	Primary hematopoietic stem cells	blood
25	chr5:106169200-106169800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:106169600-106169800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr5:106169800-106170000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:106179600-106180200	Enhancers	Stomach Mucosa	stomach
29	chr5:106179800-106180000	Enhancers	Aorta	Aorta
30	chr5:106179800-106180000	Enhancers	Hela-S3	cervix
31	chr5:106179800-106180200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:106184200-106184800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:106184800-106185000	Enhancers	A549	lung
34	chr5:106184800-106185800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr5:106185000-106185400	Enhancers	Stomach Mucosa	stomach
36	chr5:106185000-106185600	Flanking Active TSS	A549	lung
37	chr5:106185000-106188200	Enhancers	Fetal Intestine Large	intestine
38	chr5:106185200-106185400	Enhancers	Liver	Liver
39	chr5:106185200-106185400	Enhancers	Fetal Lung	lung
40	chr5:106185600-106187200	Weak transcription	A549	lung
41	chr5:106187200-106187800	Enhancers	Fetal Lung	lung
42	chr5:106187200-106188200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:106187200-106188200	Enhancers	A549	lung
44	chr5:106187400-106187800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:106189600-106194200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:106190000-106190200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr5:106190200-106190600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:106190600-106191200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr5:106191200-106198600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:106194000-106194800	Enhancers	Brain Germinal Matrix	brain

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