Variant report

Variant	nsv4914
Chromosome Location	chr5:91256869-91302581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:91264205..91265908-chr5:91266164..91267839,2	MCF-7	breast:
2	chr5:91264205..91265908-chr5:91266164..91267839,2	MCF-7	breast:

Extended variants
information (count: 1037 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561697216	chr5:91260831-91260832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1423279	chr5:91260856-91260857	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35958045	chr5:91260903-91260904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536263306	chr5:91260963-91260964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150471093	chr5:91260966-91260967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4916878	chr5:91260980-91260981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543487236	chr5:91261026-91261027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563360704	chr5:91261032-91261033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576795640	chr5:91261074-91261075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35286541	chr5:91261090-91261091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544914492	chr5:91261100-91261101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565142146	chr5:91261143-91261144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7720399	chr5:91261149-91261150	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547611666	chr5:91261160-91261161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560911369	chr5:91261168-91261169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529843309	chr5:91261169-91261170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549873890	chr5:91261220-91261221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569678468	chr5:91261221-91261222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538591699	chr5:91261226-91261227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189109124	chr5:91261230-91261231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377576948	chr5:91261256-91261257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145485686	chr5:91261268-91261269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148821945	chr5:91261274-91261275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143514962	chr5:91261314-91261315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567978764	chr5:91261318-91261319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537161462	chr5:91261322-91261323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137924010	chr5:91261339-91261340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549648085	chr5:91261360-91261361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73129594	chr5:91261361-91261362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553084848	chr5:91261432-91261433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10073603	chr5:91261452-91261453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540946315	chr5:91261483-91261484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561159990	chr5:91261484-91261485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35180609	chr5:91261486-91261487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140872593	chr5:91261575-91261576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181003129	chr5:91261576-91261577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529873940	chr5:91261602-91261603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144792238	chr5:91261605-91261606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568070285	chr5:91261625-91261626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76655117	chr5:91261637-91261638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73129595	chr5:91261641-91261642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6882105	chr5:91261690-91261691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368449626	chr5:91261757-91261758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548563181	chr5:91261771-91261772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568328559	chr5:91261930-91261931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537204464	chr5:91261949-91261950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185538757	chr5:91262095-91262096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557132012	chr5:91262106-91262107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570653719	chr5:91262118-91262119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1423280	chr5:91262137-91262138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91260800-91261400	Enhancers	Brain Germinal Matrix	brain
2	chr5:91261200-91261600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:91261400-91261600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:91261600-91263600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:91261600-91264400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:91263600-91264800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:91264400-91264800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:91264800-91270400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:91270400-91270600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:91270400-91270800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:91270600-91272400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:91270800-91274200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:91271000-91271400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:91271000-91272600	Enhancers	Fetal Heart	heart
15	chr5:91271400-91271800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:91271800-91272800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:91271800-91275600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:91272200-91272400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:91272400-91272600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:91272400-91272600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:91272400-91272800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:91272400-91273400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:91272400-91275200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:91272600-91273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:91272600-91273600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:91272600-91273600	Weak transcription	Fetal Heart	heart
27	chr5:91272800-91273800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:91272800-91274400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:91273200-91273800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:91273400-91276600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:91273600-91273800	Enhancers	Fetal Heart	heart
32	chr5:91273600-91273800	Enhancers	Fetal Lung	lung
33	chr5:91273600-91274600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:91273600-91274800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:91273800-91274800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:91273800-91275000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:91274200-91274400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:91274200-91275600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:91274400-91274600	Enhancers	Fetal Lung	lung
40	chr5:91274400-91275400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:91274600-91276200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:91274800-91275000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:91274800-91280000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr5:91275200-91276200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:91275400-91275800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:91275600-91276000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:91275600-91279800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:91275800-91276800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:91276000-91276800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:91276200-91276600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links