Variant report

Variant	esv3408650
Chromosome Location	chr5:105106503-105108901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76656407	chr5:105106598-105106599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78213386	chr5:105106613-105106614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76352519	chr5:105106615-105106616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141609427	chr5:105106649-105106650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528720015	chr5:105106661-105106662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542755767	chr5:105106670-105106671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562412117	chr5:105106690-105106691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551972464	chr5:105106774-105106775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544844298	chr5:105106864-105106865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565403832	chr5:105106865-105106866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116089519	chr5:105106881-105106882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551004999	chr5:105106888-105106889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567694148	chr5:105106889-105106890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536249416	chr5:105106909-105106910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114624573	chr5:105106918-105106919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189353787	chr5:105106919-105106920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556863446	chr5:105106955-105106956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371185325	chr5:105106983-105106984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115346198	chr5:105106986-105106987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578246878	chr5:105106991-105106992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566595026	chr5:105106999-105107000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150511086	chr5:105107000-105107001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545744394	chr5:105107048-105107049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577325978	chr5:105107149-105107150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536788519	chr5:105107199-105107200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376272798	chr5:105107206-105107207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138943862	chr5:105107216-105107217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6861335	chr5:105107223-105107224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542245350	chr5:105107229-105107230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111240689	chr5:105107249-105107250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144777119	chr5:105107284-105107285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573432922	chr5:105107295-105107296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545623860	chr5:105107313-105107314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140110445	chr5:105107376-105107377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181965884	chr5:105107404-105107405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs70993973	chr5:105107470-105107471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202002813	chr5:105107495-105107496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562834409	chr5:105107582-105107583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184278551	chr5:105107607-105107608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542716232	chr5:105107691-105107692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2054652	chr5:105107693-105107694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs66567288	chr5:105107695-105107696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5022968	chr5:105107697-105107698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7446489	chr5:105107699-105107700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2054650	chr5:105107713-105107714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs70993974	chr5:105107714-105107715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2054649	chr5:105107715-105107716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2054648	chr5:105107717-105107718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531119031	chr5:105107801-105107802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551143886	chr5:105107811-105107812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105105800-105117000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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