Variant report

Variant	esv1794185
Chromosome Location	chr5:79861520-79863544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:79859883..79861719-chr5:79862893..79865594,2	MCF-7	breast:
2	chr5:79859883..79861719-chr5:79862893..79865594,2	MCF-7	breast:
3	chr5:79858408..79862630-chr5:79863192..79865325,4	MCF-7	breast:
4	chr5:79857137..79859837-chr5:79862629..79864172,2	MCF-7	breast:
5	chr5:79858408..79862630-chr5:79863192..79865325,4	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16877903	chr5:79861520-79861521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs151075474	chr5:79861553-79861554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554979475	chr5:79861580-79861581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545188402	chr5:79861585-79861586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549939452	chr5:79861596-79861597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144156475	chr5:79861615-79861616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377619799	chr5:79861620-79861621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115108984	chr5:79861627-79861628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536159192	chr5:79861671-79861672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555743456	chr5:79861685-79861686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117493204	chr5:79861712-79861713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534703659	chr5:79861772-79861773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141292091	chr5:79861777-79861778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs578133810	chr5:79861787-79861788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543672082	chr5:79861823-79861824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201972884	chr5:79861830-79861831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565437790	chr5:79861831-79861832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112841917	chr5:79861870-79861871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144812259	chr5:79861882-79861883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553710278	chr5:79861922-79861923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73123493	chr5:79861972-79861973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188263185	chr5:79861986-79861987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559340697	chr5:79862042-79862043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529252393	chr5:79862063-79862064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528138178	chr5:79862109-79862110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576818843	chr5:79862167-79862168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181862158	chr5:79862198-79862199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386689485	chr5:79862200-79862201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7711441	chr5:79862202-79862203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531016155	chr5:79862212-79862213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550225135	chr5:79862231-79862232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs249203	chr5:79862233-79862234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs117823929	chr5:79862240-79862241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376641933	chr5:79862264-79862265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566231570	chr5:79862311-79862312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184836359	chr5:79862340-79862341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138650840	chr5:79862390-79862391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188767840	chr5:79862434-79862435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537558386	chr5:79862462-79862463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140325046	chr5:79862472-79862473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373533437	chr5:79862516-79862517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542456146	chr5:79862561-79862562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553275778	chr5:79862641-79862642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377462591	chr5:79862648-79862649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573030579	chr5:79862649-79862650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181927500	chr5:79862713-79862714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561050914	chr5:79862741-79862742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574742139	chr5:79862776-79862777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564551356	chr5:79862809-79862810	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186231119	chr5:79862851-79862852	Bivalent Enhancer Enhancers 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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79860400-79863800	Weak transcription	Brain Anterior Caudate	brain
2	chr5:79861400-79861600	Enhancers	A549	lung
3	chr5:79861400-79861800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:79862600-79863000	Enhancers	A549	lung
5	chr5:79862800-79863000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:79862800-79863000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:79862800-79863200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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