Variant report

Variant	nsv4964
Chromosome Location	chr5:114318676-114359298
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	chr1:27113830..27114333-chr5:114321794..114322294,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000060642	chromatin interactions

Extended variants
information (count: 481 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571279078	chr5:114318690-114318691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537367191	chr5:114318701-114318702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139104960	chr5:114318710-114318711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553874220	chr5:114318778-114318779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141762596	chr5:114318787-114318788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs536478584	chr5:114318824-114318825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556471486	chr5:114318842-114318843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534815401	chr5:114318877-114318878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74590613	chr5:114318881-114318882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367901190	chr5:114318902-114318903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17465433	chr5:114318903-114318904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34379660	chr5:114318904-114318905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10035992	chr5:114318936-114318937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs78850132	chr5:114318944-114318945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371636509	chr5:114318957-114318958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185990658	chr5:114318962-114318963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530209195	chr5:114318975-114318976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549982811	chr5:114319039-114319040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577143373	chr5:114319045-114319046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77656011	chr5:114319116-114319117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189663380	chr5:114319130-114319131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150595517	chr5:114319142-114319143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181342917	chr5:114319192-114319193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554290644	chr5:114319202-114319203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533819627	chr5:114319213-114319214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185953384	chr5:114319246-114319247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139552660	chr5:114319328-114319329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190764562	chr5:114319379-114319380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183292961	chr5:114319442-114319443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149715658	chr5:114319458-114319459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76306677	chr5:114319479-114319480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542960812	chr5:114319487-114319488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145580593	chr5:114319490-114319491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563824067	chr5:114319581-114319582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572331663	chr5:114319605-114319606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374335582	chr5:114319627-114319628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140803865	chr5:114319663-114319664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34462717	chr5:114319674-114319675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561019493	chr5:114319756-114319757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574607403	chr5:114319785-114319786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187655815	chr5:114319800-114319801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192004625	chr5:114319827-114319828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113335747	chr5:114319837-114319838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182630713	chr5:114319860-114319861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552580523	chr5:114319887-114319888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546736287	chr5:114319895-114319896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527264721	chr5:114319903-114319904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531850761	chr5:114319910-114319911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367868044	chr5:114319913-114319914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187677181	chr5:114319948-114319949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	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
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114317800-114320200	Weak transcription	Fetal Brain Male	brain
2	chr5:114320200-114320800	Enhancers	Fetal Brain Male	brain
3	chr5:114321000-114322600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:114323600-114324800	Enhancers	Brain Hippocampus Middle	brain
5	chr5:114324200-114324600	Enhancers	Brain Cingulate Gyrus	brain
6	chr5:114325200-114325600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:114327800-114328600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:114328400-114328800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:114335000-114335200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:114342200-114342800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:114352000-114352400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:114352000-114354800	Enhancers	Fetal Lung	lung
13	chr5:114358400-114358600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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