Variant report

Variant	esv3500707
Chromosome Location	chr12:48708162-48711247
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	chr12:48702764..48705017-chr12:48706552..48708449,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530590418	chr12:48708195-48708196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538379023	chr12:48708213-48708214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550866692	chr12:48708218-48708219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561008792	chr12:48708245-48708246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2634691	chr12:48708259-48708260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs546611382	chr12:48708266-48708267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188600259	chr12:48708292-48708293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564861030	chr12:48708334-48708335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77622747	chr12:48708359-48708360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76009515	chr12:48708392-48708393	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs137856490	chr12:48708418-48708419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78651205	chr12:48708483-48708484	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs11168519	chr12:48708493-48708494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192292261	chr12:48708497-48708498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372283335	chr12:48708560-48708561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12423404	chr12:48708568-48708569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs537661624	chr12:48708600-48708601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115908356	chr12:48708682-48708683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533969521	chr12:48708715-48708716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369862329	chr12:48708801-48708802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35684412	chr12:48708802-48708803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116271867	chr12:48708897-48708898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576777798	chr12:48708957-48708958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549091980	chr12:48708967-48708968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76674278	chr12:48708977-48708978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74723272	chr12:48708978-48708979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545914261	chr12:48708986-48708987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7969126	chr12:48708994-48708995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192041282	chr12:48709089-48709090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11168520	chr12:48709103-48709104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370379738	chr12:48709104-48709105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146019947	chr12:48709113-48709114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529955650	chr12:48709114-48709115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560977850	chr12:48709119-48709120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12317314	chr12:48709161-48709162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371209287	chr12:48709184-48709185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11836405	chr12:48709202-48709203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10875796	chr12:48709223-48709224	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182339794	chr12:48709239-48709240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113708129	chr12:48709250-48709251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55655640	chr12:48709251-48709252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs568839141	chr12:48709256-48709257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531980766	chr12:48709337-48709338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548484414	chr12:48709352-48709353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58948297	chr12:48709371-48709372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186612392	chr12:48709372-48709373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9669444	chr12:48709423-48709424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs191763207	chr12:48709448-48709449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55851988	chr12:48709479-48709480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs375388313	chr12:48709504-48709505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48708000-48709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48709600-48710000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:48709600-48710200	Weak transcription	Stomach Smooth Muscle	stomach

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