Variant report

Variant	esv3352972
Chromosome Location	chr5:107045378-107045596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565923893	chr5:107045394-107045395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540375581	chr5:107045402-107045403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114568478	chr5:107045403-107045404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532207469	chr5:107045404-107045405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189248819	chr5:107045406-107045407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552219768	chr5:107045419-107045420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562320592	chr5:107045420-107045421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538111011	chr5:107045430-107045431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62357937	chr5:107045438-107045439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs78659729	chr5:107045440-107045441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568287259	chr5:107045445-107045446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13159720	chr5:107045446-107045447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62357938	chr5:107045449-107045450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566638194	chr5:107045451-107045452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112503145	chr5:107045453-107045454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72442480	chr5:107045454-107045455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13172861	chr5:107045455-107045456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62357939	chr5:107045464-107045465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558937443	chr5:107045466-107045467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201050582	chr5:107045472-107045473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368388804	chr5:107045475-107045476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112911107	chr5:107045481-107045482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575137462	chr5:107045492-107045493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540840931	chr5:107045494-107045495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111636336	chr5:107045500-107045501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372305986	chr5:107045503-107045504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545561462	chr5:107045508-107045509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113723734	chr5:107045509-107045510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531199007	chr5:107045520-107045521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548511605	chr5:107045522-107045523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377289402	chr5:107045528-107045529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368463136	chr5:107045531-107045532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371422381	chr5:107045537-107045538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570290667	chr5:107045538-107045539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532503826	chr5:107045548-107045549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552377694	chr5:107045550-107045551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375740371	chr5:107045556-107045557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368977416	chr5:107045559-107045560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373483010	chr5:107045565-107045566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537852884	chr5:107045566-107045567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554907538	chr5:107045576-107045577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568787065	chr5:107045578-107045579	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107032400-107049000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:107041600-107049000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:107045000-107045400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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