Variant report

Variant	nsv1022886
Chromosome Location	chr5:128010041-128040856
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	chr5:127548697..127549611-chr5:128010291..128011144,2	K562	blood:
2	chr5:128039425..128040277-chr5:128063514..128064203,2	K562	blood:

Extended variants
information (count: 954 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76665375	chr5:128010063-128010064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139443022	chr5:128010065-128010066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10053477	chr5:128010071-128010072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs4382207	chr5:128010091-128010092	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs149977190	chr5:128010169-128010170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535610306	chr5:128010217-128010218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79443987	chr5:128010233-128010234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370637122	chr5:128010234-128010235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62392640	chr5:128010246-128010247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557677891	chr5:128010322-128010323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73352737	chr5:128010398-128010399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs145205544	chr5:128010438-128010439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148735050	chr5:128010477-128010478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573427039	chr5:128010480-128010481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9327482	chr5:128010520-128010521	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559667054	chr5:128010577-128010578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573428507	chr5:128010624-128010625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564573291	chr5:128010628-128010629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545366594	chr5:128010705-128010706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558232836	chr5:128010712-128010713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189935904	chr5:128010764-128010765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs207466400	chr5:128010768-128010769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183302207	chr5:128010821-128010822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201486297	chr5:128010838-128010839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115537995	chr5:128010903-128010904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530121694	chr5:128010905-128010906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34557561	chr5:128010906-128010907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10478817	chr5:128010915-128010916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs565734663	chr5:128010933-128010934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200502505	chr5:128010947-128010948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397718702	chr5:128010948-128010949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577136785	chr5:128010968-128010969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142356631	chr5:128010969-128010970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77641178	chr5:128010984-128010985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573606656	chr5:128010997-128010998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535959744	chr5:128011068-128011069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552191357	chr5:128011113-128011114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73352741	chr5:128011122-128011123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs147918227	chr5:128011130-128011131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545585407	chr5:128011144-128011145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2161306	chr5:128011205-128011206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565548424	chr5:128011214-128011215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576021863	chr5:128011258-128011259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544955756	chr5:128011263-128011264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75254007	chr5:128011285-128011286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530156719	chr5:128011426-128011427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540362720	chr5:128011427-128011428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560647073	chr5:128011428-128011429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528228561	chr5:128011453-128011454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551186914	chr5:128011481-128011482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128007000-128010600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:128007000-128018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:128007200-128010600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:128007600-128010600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:128007800-128010400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:128007800-128010600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr5:128008000-128010400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:128008000-128010600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:128008400-128010200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:128008400-128010400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:128009200-128010400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:128009400-128010400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:128009600-128010400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:128009800-128010600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:128010000-128010400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:128010400-128017600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:128010400-128017800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:128010600-128014400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:128010600-128016000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:128010800-128017600	Weak transcription	Fetal Lung	lung
21	chr5:128014400-128014800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:128014800-128015400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr5:128014800-128017000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:128015000-128015200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:128015200-128017000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:128015400-128022800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:128016000-128016200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:128016200-128017000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:128016600-128016800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:128016600-128016800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr5:128016800-128017000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr5:128016800-128018800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:128017000-128017400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr5:128017000-128018000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:128017000-128018400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr5:128017000-128018800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:128017000-128018800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:128017000-128019000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:128017200-128017800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:128017400-128018000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr5:128017400-128018000	Enhancers	Ovary	ovary
42	chr5:128017400-128018800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:128017400-128018800	Enhancers	Fetal Heart	heart
44	chr5:128017600-128018400	Enhancers	NH-A	brain
45	chr5:128017600-128018600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:128017600-128018800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:128017600-128018800	Enhancers	Fetal Lung	lung
48	chr5:128017800-128018200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:128017800-128018200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:128017800-128018200	Enhancers	Fetal Stomach	stomach

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