Variant report

Variant	nsv882749
Chromosome Location	chr5:116239583-116269079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1138 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1138 , 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	rs561328128	chr5:116239645-116239646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529117574	chr5:116239676-116239677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75278629	chr5:116239725-116239726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190600068	chr5:116239778-116239779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548255770	chr5:116239787-116239788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561817946	chr5:116239807-116239808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182842780	chr5:116239813-116239814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551646475	chr5:116239814-116239815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570910782	chr5:116239836-116239837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533502217	chr5:116239839-116239840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78342510	chr5:116239857-116239858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186619149	chr5:116239863-116239864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148683057	chr5:116239864-116239865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556512770	chr5:116239912-116239913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576569117	chr5:116239932-116239933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545424658	chr5:116239943-116239944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559247666	chr5:116239961-116239962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529451319	chr5:116240098-116240099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192397097	chr5:116240099-116240100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541403895	chr5:116240130-116240131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142167464	chr5:116240131-116240132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183657435	chr5:116240158-116240159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199856020	chr5:116240163-116240164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530247755	chr5:116240187-116240188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187908027	chr5:116240223-116240224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563040500	chr5:116240234-116240235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562585663	chr5:116240263-116240264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531485228	chr5:116240264-116240265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2605897	chr5:116240273-116240274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs376642690	chr5:116240280-116240281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191396418	chr5:116240292-116240293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527310337	chr5:116240307-116240308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147393759	chr5:116240309-116240310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566906709	chr5:116240312-116240313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536004078	chr5:116240327-116240328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556220309	chr5:116240334-116240335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139655563	chr5:116240354-116240355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144770591	chr5:116240367-116240368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539182318	chr5:116240415-116240416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559310261	chr5:116240463-116240464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572750126	chr5:116240527-116240528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560491328	chr5:116240544-116240545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182841557	chr5:116240558-116240559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187086418	chr5:116240560-116240561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527545999	chr5:116240592-116240593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147897784	chr5:116240607-116240608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140463816	chr5:116240617-116240618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543602638	chr5:116240630-116240631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549515289	chr5:116240653-116240654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563759275	chr5:116240654-116240655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116239600-116239800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:116239800-116244000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:116241400-116242400	Enhancers	GM12878-XiMat	blood
4	chr5:116242400-116244000	Weak transcription	GM12878-XiMat	blood
5	chr5:116244000-116244200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:116244000-116244400	Flanking Active TSS	GM12878-XiMat	blood
7	chr5:116244200-116244400	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:116244200-116244400	Enhancers	Pancreas	Pancrea
9	chr5:116244200-116245000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:116244400-116245600	Enhancers	GM12878-XiMat	blood
11	chr5:116245000-116247800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:116246400-116247800	Enhancers	Primary T cells from cord blood	blood
13	chr5:116246400-116247800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:116247400-116248600	Enhancers	HSMMtube	muscle
15	chr5:116247800-116248400	Enhancers	Fetal Lung	lung
16	chr5:116248600-116250800	Weak transcription	HSMMtube	muscle
17	chr5:116250200-116251600	Enhancers	Fetal Heart	heart
18	chr5:116250800-116251000	Enhancers	HSMMtube	muscle
19	chr5:116251200-116251400	Enhancers	Left Ventricle	heart
20	chr5:116252200-116252400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr5:116252400-116258800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:116257000-116259400	Enhancers	GM12878-XiMat	blood
23	chr5:116257200-116259200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:116257400-116259200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:116258400-116259200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:116258400-116260000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:116258600-116259000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:116258600-116259400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr5:116258800-116259000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr5:116258800-116259200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:116258800-116259200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:116258800-116259400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:116258800-116259400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:116258800-116259400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr5:116258800-116259400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:116258800-116259600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:116259400-116261800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr5:116263000-116263200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr5:116266000-116266200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:116266000-116268400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:116266400-116268000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:116267400-116269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:116268000-116269800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:116268400-116274000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:116269000-116274000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links