Variant report

Variant	esv1006947
Chromosome Location	chr5:90796650-90802545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 200 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572255246	chr5:90796694-90796695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190522921	chr5:90796697-90796698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182195955	chr5:90796705-90796706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114050892	chr5:90796770-90796771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543666168	chr5:90796781-90796782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533815470	chr5:90796796-90796797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141462818	chr5:90796810-90796811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576875747	chr5:90796815-90796816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16876880	chr5:90796839-90796840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs554336107	chr5:90796849-90796850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111283507	chr5:90796855-90796856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373475132	chr5:90796875-90796876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7723015	chr5:90796876-90796877	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs77764644	chr5:90796916-90796917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528130350	chr5:90796927-90796928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548457769	chr5:90797065-90797066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539746224	chr5:90797092-90797093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562073651	chr5:90797126-90797127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10038441	chr5:90797142-90797143	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs550777687	chr5:90797169-90797170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570882906	chr5:90797197-90797198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539552563	chr5:90797236-90797237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10038508	chr5:90797244-90797245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs566740754	chr5:90797264-90797265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56220509	chr5:90797283-90797284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541653278	chr5:90797300-90797301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535882785	chr5:90797326-90797327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554878540	chr5:90797341-90797342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186824305	chr5:90797378-90797379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190658143	chr5:90797476-90797477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182674968	chr5:90797500-90797501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577014751	chr5:90797618-90797619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16869794	chr5:90797619-90797620	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559432765	chr5:90797636-90797637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572484319	chr5:90797645-90797646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185828179	chr5:90797675-90797676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72771538	chr5:90797727-90797728	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs150890049	chr5:90797820-90797821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112678978	chr5:90797899-90797900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34115392	chr5:90797994-90797995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543640765	chr5:90798016-90798017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564519497	chr5:90798079-90798080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189751841	chr5:90798158-90798159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373287397	chr5:90798169-90798170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574983030	chr5:90798175-90798176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182691229	chr5:90798182-90798183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74451553	chr5:90798188-90798189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74959343	chr5:90798190-90798191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529273350	chr5:90798303-90798304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116458649	chr5:90798328-90798329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	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
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90789200-90801400	Weak transcription	Aorta	Aorta
2	chr5:90795600-90797800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:90796200-90798400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:90797400-90799600	Weak transcription	Gastric	stomach
5	chr5:90797800-90809800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:90798400-90799600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:90799600-90800000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:90799600-90800000	Enhancers	Gastric	stomach
9	chr5:90800000-90809800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:90801600-90801800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:90801800-90802800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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