Variant report

Variant	esv3379641
Chromosome Location	chr5:116926253-116928501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 134 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532224685	chr5:116926256-116926257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547678959	chr5:116926257-116926258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148503617	chr5:116926272-116926273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572843936	chr5:116926288-116926289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541469720	chr5:116926292-116926293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540832118	chr5:116926293-116926294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575539728	chr5:116926305-116926306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544467637	chr5:116926343-116926344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564546572	chr5:116926391-116926392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533601309	chr5:116926394-116926395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs428812	chr5:116926400-116926401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs142989601	chr5:116926445-116926446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529360767	chr5:116926448-116926449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376031808	chr5:116926451-116926452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192343808	chr5:116926454-116926455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs411705	chr5:116926522-116926523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569242066	chr5:116926541-116926542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530850895	chr5:116926561-116926562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558389272	chr5:116926589-116926590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77548269	chr5:116926649-116926650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73784638	chr5:116926685-116926686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs539662431	chr5:116926698-116926699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs435028	chr5:116926699-116926700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs566230904	chr5:116926724-116926725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs611501	chr5:116926758-116926759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs75738589	chr5:116926777-116926778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574864468	chr5:116926805-116926806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543783641	chr5:116926819-116926820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558462651	chr5:116926849-116926850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151121063	chr5:116926899-116926900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369255873	chr5:116926903-116926904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78638883	chr5:116926913-116926914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs612365	chr5:116926923-116926924	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539186970	chr5:116926932-116926933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2451229	chr5:116926971-116926972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370351774	chr5:116926973-116926974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs421283	chr5:116926975-116926976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555455884	chr5:116926981-116926982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372761796	chr5:116926983-116926984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369207772	chr5:116926984-116926985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140082914	chr5:116927002-116927003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183051043	chr5:116927025-116927026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141076610	chr5:116927041-116927042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371770641	chr5:116927057-116927058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147322460	chr5:116927092-116927093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2657043	chr5:116927103-116927104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113552699	chr5:116927129-116927130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374249066	chr5:116927130-116927131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369004529	chr5:116927148-116927149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28550705	chr5:116927156-116927157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116924000-116929200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links