Variant report

Variant	nsv599088
Chromosome Location	chr5:98094458-98098285
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	chr5:98097815..98101035-chr5:98108800..98111033,3	MCF-7	breast:
2	chr20:49349783..49350401-chr5:98097256..98097858,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174136	chromatin interactions
ENSG00000246763	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548001413	chr5:98094518-98094519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114934696	chr5:98094543-98094544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533650555	chr5:98094551-98094552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551892428	chr5:98094561-98094562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11366577	chr5:98094569-98094570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs398050585	chr5:98094583-98094584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570109341	chr5:98094584-98094585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537874364	chr5:98094631-98094632	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs143798687	chr5:98094678-98094679	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575093605	chr5:98094691-98094692	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535645849	chr5:98094698-98094699	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545388506	chr5:98094714-98094715	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs190686770	chr5:98094729-98094730	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372236732	chr5:98094750-98094751	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572534975	chr5:98094820-98094821	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs181979794	chr5:98094863-98094864	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564620016	chr5:98094918-98094919	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187274330	chr5:98094924-98094925	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs190907958	chr5:98094935-98094936	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs565252066	chr5:98094942-98094943	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200310436	chr5:98094954-98094955	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs10594380	chr5:98094955-98094956	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs4018048	chr5:98094957-98094958	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544499710	chr5:98094990-98094991	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148145826	chr5:98094995-98094996	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530002864	chr5:98095013-98095014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72773668	chr5:98095022-98095023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs559906668	chr5:98095029-98095030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111828084	chr5:98095035-98095036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527529324	chr5:98095058-98095059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4018049	chr5:98095106-98095107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs570560102	chr5:98095130-98095131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531174953	chr5:98095131-98095132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549771078	chr5:98095132-98095133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568614998	chr5:98095139-98095140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539996156	chr5:98095194-98095195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536166097	chr5:98095197-98095198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182789518	chr5:98095215-98095216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560204743	chr5:98095233-98095234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566276762	chr5:98095246-98095247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371364277	chr5:98095255-98095256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111312268	chr5:98095283-98095284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558270369	chr5:98095314-98095315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189920069	chr5:98095342-98095343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564282014	chr5:98095385-98095386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142932552	chr5:98095409-98095410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532064366	chr5:98095421-98095422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371693859	chr5:98095447-98095448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555738940	chr5:98095591-98095592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573990495	chr5:98095623-98095624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Basal cell lymphoma	17053054	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98089600-98104000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:98090200-98099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:98094200-98094600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:98094600-98095000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:98095000-98095200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:98097200-98097400	Enhancers	HSMMtube	muscle
7	chr5:98097400-98103200	Weak transcription	HSMMtube	muscle
8	chr5:98098200-98101000	Enhancers	NHDF-Ad	bronchial

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