Variant report

Variant	nsv10733
Chromosome Location	chr5:100634298-100642483
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	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
2	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:

Extended variants
information (count: 286 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527687686	chr5:100634334-100634335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549617248	chr5:100634390-100634391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143992368	chr5:100634403-100634404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527540633	chr5:100634449-100634450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564415106	chr5:100634462-100634463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375600484	chr5:100634500-100634501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537731017	chr5:100634503-100634504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58679950	chr5:100634507-100634508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371433696	chr5:100634533-100634534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200979602	chr5:100634578-100634579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61104972	chr5:100634579-100634580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1545683	chr5:100634600-100634601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531601595	chr5:100634613-100634614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556749139	chr5:100634615-100634616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567945764	chr5:100634647-100634648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529116512	chr5:100634648-100634649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547308605	chr5:100634649-100634650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565626304	chr5:100634692-100634693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80306440	chr5:100634713-100634714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11738776	chr5:100634724-100634725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569651008	chr5:100634737-100634738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75476793	chr5:100634755-100634756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532533202	chr5:100634764-100634765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556779617	chr5:100634777-100634778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575102359	chr5:100634780-100634781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547614422	chr5:100634794-100634795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545551575	chr5:100634795-100634796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188786874	chr5:100634800-100634801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192625301	chr5:100634824-100634825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74642664	chr5:100634847-100634848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545874153	chr5:100634873-100634874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376635820	chr5:100634892-100634893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572844919	chr5:100634920-100634921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373145623	chr5:100634958-100634959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375217147	chr5:100634998-100634999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17134275	chr5:100634999-100635000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs78669084	chr5:100635022-100635023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62384883	chr5:100635029-100635030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79786961	chr5:100635033-100635034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140001509	chr5:100635076-100635077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7714922	chr5:100635105-100635106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs149342778	chr5:100635136-100635137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117791646	chr5:100635166-100635167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77591215	chr5:100635173-100635174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs17134276	chr5:100635180-100635181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376501582	chr5:100635181-100635182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184046882	chr5:100635221-100635222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139612377	chr5:100635309-100635310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140410541	chr5:100635365-100635366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554391124	chr5:100635366-100635367	Weak transcription	n/a	n/a	Overlapped CNVs	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	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
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100627400-100640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:100640200-100640600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:100640600-100641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100641200-100641400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr5:100641200-100642000	Enhancers	A549	lung
6	chr5:100642000-100642200	Flanking Active TSS	A549	lung
7	chr5:100642200-100642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:100642200-100642600	Active TSS	A549	lung
9	chr5:100642200-100642800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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