Variant report

Variant	nsv882419
Chromosome Location	chr5:98513824-98694849
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:98656230..98656989-chr5:99647221..99648200,3	MCF-7	breast:
2	chr5:98687563..98689159-chr5:98702688..98704857,2	MCF-7	breast:
3	chr5:98683331..98686253-chr5:98686370..98688077,2	K562	blood:
4	chr5:98691604..98693198-chr5:98695022..98696539,2	K562	blood:
5	chr5:98684216..98686080-chr5:98701796..98703899,2	MCF-7	breast:
6	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:
7	chr5:98683331..98686253-chr5:98686370..98688077,2	K562	blood:
8	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
9	chr5:98571402..98573856-chr5:98574423..98577083,2	K562	blood:
10	chr5:98641996..98644469-chr5:98647051..98649595,2	K562	blood:

No data

Extended variants
information (count: 1462 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1462 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10056524	chr5:98513824-98513825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369719346	chr5:98513826-98513827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540755644	chr5:98513830-98513831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191864573	chr5:98513834-98513835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10054702	chr5:98513925-98513926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184094462	chr5:98513984-98513985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547507897	chr5:98514037-98514038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565431992	chr5:98514071-98514072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563110841	chr5:98514128-98514129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12653401	chr5:98514172-98514173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550945534	chr5:98514192-98514193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77813146	chr5:98514242-98514243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537720977	chr5:98514248-98514249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79985350	chr5:98514268-98514269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139118261	chr5:98514296-98514297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559487002	chr5:98514301-98514302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74405256	chr5:98514309-98514310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201959948	chr5:98514312-98514313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534903223	chr5:98514328-98514329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529535690	chr5:98514346-98514347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200297385	chr5:98514364-98514365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7712446	chr5:98514388-98514389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116076045	chr5:98514400-98514401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545437577	chr5:98514421-98514422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149211996	chr5:98514450-98514451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1500242	chr5:98514523-98514524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576409488	chr5:98514566-98514567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377049684	chr5:98514587-98514588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368988980	chr5:98514590-98514591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543659106	chr5:98514627-98514628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145173017	chr5:98514781-98514782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189432697	chr5:98514783-98514784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540843822	chr5:98514791-98514792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569583431	chr5:98514812-98514813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34897491	chr5:98514822-98514823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559056416	chr5:98515013-98515014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75167062	chr5:98515014-98515015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182065879	chr5:98515035-98515036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530472586	chr5:98515058-98515059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569262033	chr5:98515070-98515071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371723209	chr5:98515082-98515083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530416464	chr5:98515106-98515107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376447437	chr5:98515147-98515148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184982271	chr5:98515148-98515149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567842929	chr5:98515173-98515174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535255331	chr5:98515177-98515178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553573288	chr5:98515208-98515209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571794041	chr5:98515215-98515216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539091092	chr5:98515240-98515241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557402071	chr5:98515271-98515272	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98512000-98515600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:98513800-98514800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:98514800-98515400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:98514800-98515400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:98523400-98524000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:98523400-98524000	Enhancers	HUVEC	blood vessel
7	chr5:98524000-98526800	Weak transcription	HUVEC	blood vessel
8	chr5:98526600-98526800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:98526600-98528000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:98526600-98528000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:98526800-98528000	Enhancers	HUVEC	blood vessel
12	chr5:98527000-98527800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:98527000-98527800	Enhancers	NH-A	brain
14	chr5:98574200-98579200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:98576600-98577200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:98578800-98579600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:98579200-98582800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:98582800-98584000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:98583000-98583600	Enhancers	Fetal Muscle Leg	muscle
20	chr5:98583400-98584200	Enhancers	HUVEC	blood vessel
21	chr5:98584000-98584400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:98584400-98584800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:98589400-98592400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:98591200-98591800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:98592400-98593000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:98593000-98593200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:98615200-98615600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:98621600-98622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:98640800-98641200	Enhancers	Fetal Brain Female	brain
30	chr5:98641000-98641600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr5:98641000-98641800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:98641200-98641600	Enhancers	Fetal Lung	lung
33	chr5:98641600-98643400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:98641600-98644800	Weak transcription	Fetal Lung	lung
35	chr5:98641800-98643200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:98643200-98644600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr5:98643400-98644600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr5:98644600-98646200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr5:98644600-98646400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:98644800-98645200	Enhancers	Fetal Lung	lung
41	chr5:98645200-98650200	Weak transcription	Fetal Lung	lung
42	chr5:98646200-98647400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr5:98646400-98647400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr5:98647400-98648200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr5:98647400-98649000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:98648200-98649400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:98649000-98650800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:98649400-98653200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr5:98649600-98651200	Enhancers	Fetal Stomach	stomach
50	chr5:98650200-98652600	Enhancers	Fetal Lung	lung

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