Variant report

Variant	esv3386680
Chromosome Location	chr5:127903453-127907351
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	chr5:127896126..127898974-chr5:127902072..127903856,2	MCF-7	breast:
2	chr5:127881388..127883013-chr5:127901894..127903649,2	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182279392	chr5:127903476-127903477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537764662	chr5:127903489-127903490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35372786	chr5:127903492-127903493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144595281	chr5:127903547-127903548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549715892	chr5:127903567-127903568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569560470	chr5:127903572-127903573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6595842	chr5:127903628-127903629	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs186602195	chr5:127903629-127903630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371109501	chr5:127903680-127903681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80254117	chr5:127903687-127903688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192345880	chr5:127903689-127903690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183907383	chr5:127903799-127903800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138540730	chr5:127903823-127903824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538489352	chr5:127903839-127903840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555151017	chr5:127903880-127903881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537351534	chr5:127903947-127903948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557274333	chr5:127903957-127903958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571898412	chr5:127904019-127904020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74414560	chr5:127904112-127904113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115611364	chr5:127904191-127904192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114895196	chr5:127904199-127904200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78829416	chr5:127904236-127904237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553487702	chr5:127904270-127904271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573401421	chr5:127904280-127904281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71575723	chr5:127904295-127904296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71575724	chr5:127904380-127904381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371145363	chr5:127904402-127904403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541192865	chr5:127904439-127904440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558016640	chr5:127904451-127904452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564142704	chr5:127904492-127904493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188872949	chr5:127904500-127904501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13179503	chr5:127904508-127904509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374206176	chr5:127904523-127904524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573661035	chr5:127904527-127904528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71587984	chr5:127904533-127904534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12652442	chr5:127904546-127904547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563291773	chr5:127904568-127904569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13179535	chr5:127904574-127904575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528852220	chr5:127904591-127904592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532181175	chr5:127904606-127904607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115710100	chr5:127904693-127904694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528186612	chr5:127904699-127904700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551909864	chr5:127904710-127904711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12233934	chr5:127904725-127904726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571748723	chr5:127904736-127904737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62390696	chr5:127904738-127904739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs374108851	chr5:127904751-127904752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184463486	chr5:127904773-127904774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536625683	chr5:127904854-127904855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368324144	chr5:127904859-127904860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127901400-127904000	Enhancers	Placenta	Placenta
2	chr5:127901600-127903600	Enhancers	Hela-S3	cervix
3	chr5:127902600-127903600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:127902600-127907200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:127902600-127907400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:127902800-127907800	Weak transcription	A549	lung
7	chr5:127903200-127903800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:127903400-127904200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:127903600-127904200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:127903600-127904200	Enhancers	NHEK	skin
11	chr5:127903800-127908800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:127904000-127908800	Weak transcription	Placenta	Placenta
13	chr5:127904200-127907200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:127904200-127907800	Weak transcription	NHEK	skin
15	chr5:127905400-127906400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:127905800-127906200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:127905800-127906200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:127907200-127907600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:127907200-127910600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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