Variant report

Variant	esv2648135
Chromosome Location	chr5:94108484-94110061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575023249	chr5:94108502-94108503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145479727	chr5:94108514-94108515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540417036	chr5:94108517-94108518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527382509	chr5:94108522-94108523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191906890	chr5:94108545-94108546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148901543	chr5:94108670-94108671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145297690	chr5:94108677-94108678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117983507	chr5:94108679-94108680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569417221	chr5:94108685-94108686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572440574	chr5:94108691-94108692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183994340	chr5:94108692-94108693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188436320	chr5:94108733-94108734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561108264	chr5:94108760-94108761	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1504921	chr5:94108816-94108817	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147603640	chr5:94108824-94108825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553802098	chr5:94108838-94108839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11749680	chr5:94108856-94108857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74843465	chr5:94108870-94108871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565114392	chr5:94108871-94108872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142182538	chr5:94108920-94108921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17331955	chr5:94108923-94108924	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545330551	chr5:94108941-94108942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545813256	chr5:94108948-94108949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146495899	chr5:94108951-94108952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543282794	chr5:94108973-94108974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562864684	chr5:94108986-94108987	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540886253	chr5:94108993-94108994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531589648	chr5:94109109-94109110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572032807	chr5:94109147-94109148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148319120	chr5:94109148-94109149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542339315	chr5:94109159-94109160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562042565	chr5:94109181-94109182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560938660	chr5:94109188-94109189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180893443	chr5:94109189-94109190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565871045	chr5:94109190-94109191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184256137	chr5:94109261-94109262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140516779	chr5:94109371-94109372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150401920	chr5:94109384-94109385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552010312	chr5:94109451-94109452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138149205	chr5:94109499-94109500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527650288	chr5:94109521-94109522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377713186	chr5:94109528-94109529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190753141	chr5:94109540-94109541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143019420	chr5:94109541-94109542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576932824	chr5:94109589-94109590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115869404	chr5:94109601-94109602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72775317	chr5:94109602-94109603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs13187030	chr5:94109608-94109609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13173792	chr5:94109618-94109619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200172091	chr5:94109634-94109635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94074200-94127600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:94083000-94125800	Weak transcription	HUVEC	blood vessel
3	chr5:94097800-94128400	Weak transcription	Primary T cells from cord blood	blood
4	chr5:94102200-94128000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:94102600-94111800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:94104800-94128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:94105200-94109800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:94105200-94127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:94106000-94126000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:94106000-94126000	Weak transcription	Lung	lung
11	chr5:94106400-94128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:94107800-94109000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr5:94108000-94108600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:94108200-94110000	Weak transcription	Fetal Thymus	thymus
15	chr5:94108600-94110200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:94109000-94109800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:94109800-94110800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:94109800-94114800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr5:94110000-94115000	Strong transcription	Fetal Thymus	thymus

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