Variant report

Variant	esv3348990
Chromosome Location	chr5:105085753-105087651
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:105087530..105089094-chr6:26156464..26158015,2	K562	blood:

Variant related genes	Relation type
ENSG00000168298	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533710651	chr5:105085816-105085817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564270926	chr5:105085838-105085839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183332168	chr5:105085845-105085846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549780507	chr5:105085850-105085851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563673477	chr5:105085859-105085860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531509287	chr5:105085867-105085868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548422533	chr5:105085874-105085875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78435096	chr5:105085875-105085876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567142602	chr5:105085881-105085882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377007904	chr5:105085909-105085910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534037446	chr5:105085968-105085969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537858196	chr5:105085974-105085975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76996842	chr5:105085979-105085980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556247134	chr5:105086030-105086031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570595322	chr5:105086041-105086042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556581331	chr5:105086056-105086057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6882537	chr5:105086105-105086106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556216604	chr5:105086182-105086183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114669209	chr5:105086196-105086197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535095302	chr5:105086415-105086416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556073086	chr5:105086441-105086442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572632585	chr5:105086463-105086464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541265268	chr5:105086464-105086465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200404583	chr5:105086478-105086479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558976449	chr5:105086480-105086481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs55837913	chr5:105086481-105086482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564307572	chr5:105086483-105086484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577739078	chr5:105086484-105086485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543462781	chr5:105086487-105086488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563541235	chr5:105086488-105086489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201642449	chr5:105086492-105086493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12652333	chr5:105086495-105086496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199555546	chr5:105086498-105086499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374705655	chr5:105086502-105086503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371226339	chr5:105086506-105086507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375464647	chr5:105086514-105086515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368567401	chr5:105086519-105086520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371388369	chr5:105086523-105086524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12652797	chr5:105086533-105086534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188791311	chr5:105086534-105086535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575084574	chr5:105086539-105086540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62370160	chr5:105086543-105086544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192453008	chr5:105086554-105086555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369726848	chr5:105086616-105086617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200038480	chr5:105086633-105086634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56027340	chr5:105086634-105086635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368112174	chr5:105086636-105086637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549102337	chr5:105086670-105086671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183444338	chr5:105086678-105086679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562042367	chr5:105086722-105086723	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	chr5:105085800-105089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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