Variant report

Variant	esv3416062
Chromosome Location	chr5:127545603-127547501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs251213	chr5:127545605-127545606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs35819513	chr5:127545629-127545630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572124798	chr5:127545635-127545636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541051123	chr5:127545677-127545678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371623598	chr5:127545700-127545701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564077307	chr5:127545701-127545702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183799085	chr5:127545774-127545775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377057086	chr5:127545877-127545878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569749894	chr5:127545887-127545888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11436410	chr5:127545896-127545897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57238813	chr5:127545909-127545910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs251212	chr5:127545910-127545911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189159074	chr5:127545938-127545939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192892747	chr5:127545951-127545952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548724622	chr5:127545969-127545970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559422611	chr5:127546019-127546020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535367511	chr5:127546203-127546204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56718459	chr5:127546214-127546215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575121872	chr5:127546231-127546232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34831279	chr5:127546258-127546259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2617621	chr5:127546266-127546267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs566284862	chr5:127546442-127546443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568617823	chr5:127546446-127546447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200427537	chr5:127546447-127546448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535135042	chr5:127546449-127546450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138683114	chr5:127546498-127546499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71587969	chr5:127546505-127546506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537050121	chr5:127546533-127546534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2546146	chr5:127546539-127546540	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs377559992	chr5:127546566-127546567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201024590	chr5:127546572-127546573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200705917	chr5:127546573-127546574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567822667	chr5:127546624-127546625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373632208	chr5:127546649-127546650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11949834	chr5:127546720-127546721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528930981	chr5:127546787-127546788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553577376	chr5:127546829-127546830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572188193	chr5:127546872-127546873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534742452	chr5:127546876-127546877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75597284	chr5:127546904-127546905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183817869	chr5:127546979-127546980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147233597	chr5:127546986-127546987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187402040	chr5:127546995-127546996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139345289	chr5:127547106-127547107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542434380	chr5:127547109-127547110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112720125	chr5:127547136-127547137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559086454	chr5:127547145-127547146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141550343	chr5:127547171-127547172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs251387	chr5:127547180-127547181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs150880065	chr5:127547250-127547251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127537600-127549200	Weak transcription	A549	lung
2	chr5:127537600-127552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:127544600-127552200	Weak transcription	Left Ventricle	heart
4	chr5:127544800-127548800	Weak transcription	Fetal Heart	heart
5	chr5:127545000-127546200	Enhancers	HepG2	liver

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