Variant report

Variant	nsv882488
Chromosome Location	chr5:100633738-100665557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
2	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
3	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:

Extended variants
information (count: 857 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1459583	chr5:100633738-100633739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530460457	chr5:100633763-100633764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114608562	chr5:100633776-100633777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13156375	chr5:100633787-100633788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560499988	chr5:100633790-100633791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373918347	chr5:100633817-100633818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529896654	chr5:100633840-100633841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370537561	chr5:100633860-100633861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397792414	chr5:100633872-100633873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552408101	chr5:100633898-100633899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80014496	chr5:100633902-100633903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138507978	chr5:100633928-100633929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549604195	chr5:100633931-100633932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371750141	chr5:100633944-100633945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149893370	chr5:100634049-100634050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9654535	chr5:100634067-100634068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs535385880	chr5:100634071-100634072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10043874	chr5:100634083-100634084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1350620	chr5:100634088-100634089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182235192	chr5:100634099-100634100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557572128	chr5:100634134-100634135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554655568	chr5:100634161-100634162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544812028	chr5:100634162-100634163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560184431	chr5:100634184-100634185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556842929	chr5:100634199-100634200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575164276	chr5:100634205-100634206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199972985	chr5:100634223-100634224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs5869941	chr5:100634224-100634225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200414637	chr5:100634225-100634226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3066339	chr5:100634235-100634236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397884135	chr5:100634238-100634239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542574860	chr5:100634287-100634288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187553740	chr5:100634296-100634297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527687686	chr5:100634334-100634335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549617248	chr5:100634390-100634391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143992368	chr5:100634403-100634404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527540633	chr5:100634449-100634450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564415106	chr5:100634462-100634463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375600484	chr5:100634500-100634501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537731017	chr5:100634503-100634504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58679950	chr5:100634507-100634508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371433696	chr5:100634533-100634534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200979602	chr5:100634578-100634579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61104972	chr5:100634579-100634580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1545683	chr5:100634600-100634601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531601595	chr5:100634613-100634614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556749139	chr5:100634615-100634616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567945764	chr5:100634647-100634648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529116512	chr5:100634648-100634649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547308605	chr5:100634649-100634650	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:24 , 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
10	chr5:100642600-100643000	Flanking Active TSS	A549	lung
11	chr5:100643000-100643600	Enhancers	A549	lung
12	chr5:100647400-100650800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:100647600-100648400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:100647600-100648400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:100650600-100651000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:100650800-100651000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:100651000-100652400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:100651000-100652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:100652400-100653400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:100652800-100653200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:100653200-100656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:100656200-100657000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:100656400-100657000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:100665200-100665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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