Variant report

Variant	esv1798298
Chromosome Location	chr5:117869292-117872434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7729492	chr5:117869292-117869293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149666943	chr5:117869305-117869306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80318901	chr5:117869330-117869331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7729521	chr5:117869357-117869358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566855725	chr5:117869366-117869367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184628898	chr5:117869373-117869374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114129060	chr5:117869383-117869384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148719811	chr5:117869385-117869386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112081781	chr5:117869391-117869392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112316311	chr5:117869396-117869397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558394935	chr5:117869433-117869434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78186293	chr5:117869444-117869445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10068480	chr5:117869445-117869446	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75487734	chr5:117869447-117869448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142256376	chr5:117869449-117869450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542270310	chr5:117869451-117869452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150911531	chr5:117869505-117869506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531503682	chr5:117869539-117869540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551566857	chr5:117869578-117869579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374450949	chr5:117869580-117869581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56915104	chr5:117869596-117869597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571099211	chr5:117869639-117869640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10068609	chr5:117869644-117869645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs6890663	chr5:117869657-117869658	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566867600	chr5:117869661-117869662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10053323	chr5:117869665-117869666	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555482342	chr5:117869707-117869708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372065435	chr5:117869750-117869751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569532380	chr5:117869760-117869761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78244242	chr5:117869761-117869762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113792362	chr5:117869792-117869793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs33938710	chr5:117869798-117869799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114435284	chr5:117869828-117869829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534164325	chr5:117869855-117869856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190301809	chr5:117869942-117869943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573673147	chr5:117869954-117869955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542561699	chr5:117869967-117869968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562351076	chr5:117869999-117870000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144350377	chr5:117870026-117870027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181796408	chr5:117870035-117870036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567251771	chr5:117870079-117870080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112582552	chr5:117870089-117870090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10042413	chr5:117870106-117870107	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs543092894	chr5:117870107-117870108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570976048	chr5:117870121-117870122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184761614	chr5:117870146-117870147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112952852	chr5:117870161-117870162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10036889	chr5:117870196-117870197	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560588065	chr5:117870201-117870202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs144440221	chr5:117870219-117870220	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117859400-117870200	Weak transcription	Left Ventricle	heart
2	chr5:117866400-117870200	Weak transcription	Right Atrium	heart
3	chr5:117868000-117870600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:117868200-117869600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:117868600-117870400	Enhancers	Fetal Heart	heart
6	chr5:117869400-117870000	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:117870200-117870400	Enhancers	Left Ventricle	heart
8	chr5:117870200-117870400	Enhancers	Right Atrium	heart

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