Variant report

Variant	esv3413775
Chromosome Location	chr5:120704953-120708351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547688258	chr5:120705245-120705246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77779747	chr5:120705275-120705276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78033036	chr5:120705288-120705289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114867468	chr5:120705289-120705290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528357967	chr5:120705338-120705339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546919672	chr5:120705439-120705440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148376147	chr5:120705456-120705457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141429766	chr5:120705459-120705460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181336901	chr5:120705468-120705469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536453400	chr5:120705474-120705475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569310905	chr5:120705519-120705520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536367676	chr5:120705563-120705564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554508840	chr5:120705569-120705570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572910383	chr5:120705608-120705609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540475040	chr5:120705624-120705625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10478514	chr5:120705640-120705641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577156927	chr5:120705641-120705642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147032361	chr5:120705706-120705707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62382634	chr5:120705711-120705712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530596240	chr5:120705729-120705730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78260362	chr5:120705737-120705738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373579737	chr5:120705759-120705760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113171563	chr5:120705766-120705767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368144572	chr5:120705775-120705776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs246208	chr5:120705784-120705785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532334480	chr5:120705789-120705790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143888335	chr5:120705801-120705802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74917930	chr5:120705810-120705811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571813032	chr5:120705860-120705861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189968546	chr5:120705873-120705874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78780161	chr5:120705897-120705898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566668693	chr5:120705906-120705907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534294716	chr5:120705934-120705935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61110338	chr5:120705993-120705994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570974909	chr5:120707438-120707439	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs531598524	chr5:120707458-120707459	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs77823393	chr5:120707465-120707466	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs77325534	chr5:120707499-120707500	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs536178609	chr5:120707517-120707518	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs554371146	chr5:120707535-120707536	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs75867609	chr5:120707551-120707552	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs533825210	chr5:120707557-120707558	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs139868470	chr5:120707571-120707572	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs576908811	chr5:120707573-120707574	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs543844082	chr5:120707582-120707583	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs78730013	chr5:120707589-120707590	Bivalent Enhancer	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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120705200-120706000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:120707400-120707600	Bivalent Enhancer	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links