Variant report

Variant	nsv882368
Chromosome Location	chr5:89990324-90012379
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90007247..90014347-chr5:90014590..90019207,8	K562	blood:
2	chr5:90001172..90003183-chr5:90006013..90008402,2	K562	blood:
3	chr5:89996062..89999170-chr5:90000730..90003176,4	K562	blood:
4	chr5:89996062..89998352-chr5:90001342..90003176,2	K562	blood:
5	chr5:89989350..89991740-chr5:89999562..90002123,3	K562	blood:
6	chr5:90004824..90005819-chr5:90079374..90080191,7	MCF-7	breast:
7	chr5:90009460..90011230-chr5:90014685..90016873,2	K562	blood:
8	chr5:89998991..90003482-chr5:90003758..90009177,7	K562	blood:
9	chr5:89992042..89994832-chr5:90000512..90002853,3	K562	blood:
10	chr5:90001746..90003482-chr5:90003758..90005802,2	K562	blood:
11	chr5:89992042..89994832-chr5:90000512..90002853,2	K562	blood:
12	chr5:90005181..90006888-chr5:90015330..90017702,2	K562	blood:
13	chr5:90010535..90012763-chr5:90098417..90101148,2	K562	blood:
14	chr5:89996062..89998352-chr5:90001342..90003176,2	K562	blood:
15	chr5:89998991..90003482-chr5:90003758..90009177,7	K562	blood:
16	chr5:90005569..90007151-chr5:90010684..90012354,2	K562	blood:
17	chr5:90011449..90014347-chr5:90016654..90019207,2	K562	blood:
18	chr5:89989350..89991740-chr5:90000493..90002123,2	K562	blood:
19	chr5:89998991..90000566-chr5:90004861..90006385,2	K562	blood:
20	chr5:90001746..90003482-chr5:90003758..90005802,2	K562	blood:
21	chr5:89853129..89855268-chr5:89993833..89995686,2	MCF-7	breast:
22	chr5:90004946..90006140-chr5:90079283..90080191,6	MCF-7	breast:
23	chr5:89987591..89990356-chr5:89991172..89993291,2	MCF-7	breast:
24	chr5:89994085..89995994-chr5:89996980..89998521,2	K562	blood:
25	chr5:90005569..90007151-chr5:90010684..90012354,2	K562	blood:
26	chr5:90001172..90003183-chr5:90006013..90008402,2	K562	blood:
27	chr5:90004952..90005852-chr5:90079260..90079764,2	K562	blood:
28	chr5:89994085..89995994-chr5:89996980..89998521,2	K562	blood:
29	chr5:89996062..89999170-chr5:90000730..90003176,4	K562	blood:
30	chr5:89704471..89707067-chr5:89999894..90001997,2	K562	blood:
31	chr5:89992042..89994832-chr5:90000512..90002853,3	K562	blood:
32	chr5:89992042..89994832-chr5:90000512..90002853,2	K562	blood:
33	chr5:89998991..90000566-chr5:90004861..90006385,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255647	chromatin interactions
ENSG00000153140	chromatin interactions
ENSG00000164199	chromatin interactions

Extended variants
information (count: 813 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1878878	chr5:89990324-89990325	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs201767905	chr5:89990343-89990344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200241260	chr5:89990379-89990380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79915053	chr5:89990386-89990387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199715286	chr5:89990394-89990395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146526977	chr5:89990440-89990441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201583659	chr5:89990446-89990447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201214794	chr5:89990447-89990448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139278305	chr5:89990524-89990525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181383993	chr5:89990527-89990528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10068473	chr5:89990545-89990546	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs371729487	chr5:89990554-89990555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201280365	chr5:89990565-89990566	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375091797	chr5:89990566-89990567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547656694	chr5:89990589-89990590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527842901	chr5:89990605-89990606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542062065	chr5:89990608-89990609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143189806	chr5:89990634-89990635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111887612	chr5:89990651-89990652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538855067	chr5:89990677-89990678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147542163	chr5:89990749-89990750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575211783	chr5:89990750-89990751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569918951	chr5:89990788-89990789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185870687	chr5:89990796-89990797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189991235	chr5:89990858-89990859	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182578160	chr5:89991011-89991012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35808746	chr5:89991023-89991024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535170229	chr5:89991034-89991035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368056396	chr5:89991054-89991055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188112584	chr5:89991059-89991060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367579349	chr5:89991101-89991102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7713007	chr5:89991173-89991174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556520275	chr5:89991237-89991238	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7732809	chr5:89991258-89991259	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs76572622	chr5:89991290-89991291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs558310596	chr5:89991298-89991299	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572105937	chr5:89991304-89991305	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4019423	chr5:89991306-89991307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540758351	chr5:89991328-89991329	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs977906	chr5:89991389-89991390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs182757963	chr5:89991423-89991424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139116119	chr5:89991503-89991504	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs57491420	chr5:89991506-89991507	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543658666	chr5:89991599-89991600	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73772467	chr5:89991617-89991618	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs80277535	chr5:89991623-89991624	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs16868995	chr5:89991695-89991696	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs188893991	chr5:89991698-89991699	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528579965	chr5:89991725-89991726	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192530269	chr5:89991733-89991734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89936800-89994200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:89950400-90033400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:89964400-89993400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:89964600-89994800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:89965000-89993600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:89967200-89992000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:89979200-90002600	Weak transcription	Brain Anterior Caudate	brain
8	chr5:89981800-89992000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:89982000-90004600	Weak transcription	Fetal Brain Female	brain
10	chr5:89984200-89991800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:89985000-89994600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:89985200-89991400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:89985200-89993000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:89985600-89991000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:89985800-89990600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr5:89985800-89991200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:89986400-89990400	Strong transcription	K562	blood
18	chr5:89986800-89994200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:89987000-89991800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:89987000-89991800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:89987000-89991800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr5:89987000-89992200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:89987000-90001200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:89987400-89991600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr5:89987800-90007200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:89988200-89990400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:89988800-89991200	Weak transcription	Lung	lung
28	chr5:89989800-89990400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:89990400-89991800	Weak transcription	K562	blood
30	chr5:89990400-89992800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:89990400-89995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:89990600-90001200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:89991000-89991800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:89991200-90001000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:89991400-89991800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:89991600-89993200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr5:89991800-89992200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:89991800-89992400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:89991800-89992400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:89991800-89992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:89991800-89992400	Genic enhancers	K562	blood
42	chr5:89991800-89992400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr5:89991800-90014000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:89992000-89992200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:89992000-89992400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:89992400-89993200	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr5:89992400-89994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:89992400-89994800	Strong transcription	K562	blood
49	chr5:89992400-89995600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:89992400-89999800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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