Variant report

Variant	esv3341209
Chromosome Location	chr5:93257221-93259769
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	chr5:93259705..93262376-chr5:93294800..93297613,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138217996	chr5:93257225-93257226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2167763	chr5:93257240-93257241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538481048	chr5:93257284-93257285	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs74485700	chr5:93257304-93257305	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558378584	chr5:93257323-93257324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571281595	chr5:93257446-93257447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186081482	chr5:93257473-93257474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190166621	chr5:93257476-93257477	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181783707	chr5:93257497-93257498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542514203	chr5:93257590-93257591	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556081056	chr5:93257637-93257638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575931169	chr5:93257644-93257645	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544833319	chr5:93257652-93257653	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs141711933	chr5:93257666-93257667	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs12515593	chr5:93257691-93257692	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540653249	chr5:93257746-93257747	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186488819	chr5:93257771-93257772	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553954028	chr5:93257824-93257825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540695260	chr5:93257947-93257948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs561291477	chr5:93257991-93257992	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191334456	chr5:93258004-93258005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112401173	chr5:93258017-93258018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577303188	chr5:93258107-93258108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549388008	chr5:93258108-93258109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185369726	chr5:93258139-93258140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189684423	chr5:93258140-93258141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183566083	chr5:93258143-93258144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571776620	chr5:93258226-93258227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533671301	chr5:93258241-93258242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189023429	chr5:93258369-93258370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553780415	chr5:93258453-93258454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545819142	chr5:93258465-93258466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75612844	chr5:93258511-93258512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562763006	chr5:93258516-93258517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113943856	chr5:93258549-93258550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575967919	chr5:93258603-93258604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544871971	chr5:93258625-93258626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192971857	chr5:93258685-93258686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572159777	chr5:93258713-93258714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531610801	chr5:93258869-93258870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540380906	chr5:93259005-93259006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562751502	chr5:93259011-93259012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183580973	chr5:93259019-93259020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188274242	chr5:93259040-93259041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531408201	chr5:93259073-93259074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541683378	chr5:93259091-93259092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532057304	chr5:93259152-93259153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561666235	chr5:93259153-93259154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565339186	chr5:93259176-93259177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527843959	chr5:93259211-93259212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Esophageal adenocarcinoma	18519675	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
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93194200-93307600	Weak transcription	Left Ventricle	heart
2	chr5:93226800-93269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:93228000-93266600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:93249600-93261000	Weak transcription	NHDF-Ad	bronchial
5	chr5:93250000-93262200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:93250200-93273800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:93250800-93259200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:93252200-93284400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:93253000-93259000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:93253200-93263200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:93255800-93258200	Enhancers	Fetal Thymus	thymus
12	chr5:93256200-93259600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:93256400-93258000	Flanking Active TSS	Dnd41	blood
14	chr5:93256800-93258000	Enhancers	Thymus	Thymus
15	chr5:93257000-93270200	Weak transcription	Primary T cells from cord blood	blood
16	chr5:93257200-93287400	Weak transcription	Primary B cells from cord blood	blood
17	chr5:93257400-93260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:93258000-93258200	Enhancers	Dnd41	blood

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