Variant report

Variant	nsv558793
Chromosome Location	chr12:48704474-48710427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48704261..48706305-chr12:48731702..48733217,2	K562	blood:
2	chr12:48699980..48703428-chr12:48704506..48706488,3	K562	blood:
3	chr12:48702764..48705017-chr12:48706552..48708449,2	K562	blood:
4	chr12:48698712..48702509-chr12:48702715..48705745,3	MCF-7	breast:
5	chr12:48699980..48702958-chr12:48704506..48706166,2	K562	blood:
6	chr12:48702764..48705017-chr12:48706552..48708449,2	K562	blood:
7	chr12:48688262..48692290-chr12:48702214..48707293,5	K562	blood:

Extended variants
information (count: 207 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17122906	chr12:48704474-48704475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529132443	chr12:48704475-48704476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371616409	chr12:48704476-48704477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563679045	chr12:48704481-48704482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184005954	chr12:48704596-48704597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544458174	chr12:48704612-48704613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527689360	chr12:48704640-48704641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187191739	chr12:48704642-48704643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112297143	chr12:48704679-48704680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2634695	chr12:48704697-48704698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139206025	chr12:48704743-48704744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191651206	chr12:48704770-48704771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184463500	chr12:48704795-48704796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114312616	chr12:48704803-48704804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111806460	chr12:48704807-48704808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576143746	chr12:48704866-48704867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535386437	chr12:48704867-48704868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555605758	chr12:48704922-48704923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571983007	chr12:48705003-48705004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188822668	chr12:48705119-48705120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182443042	chr12:48705158-48705159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549235669	chr12:48705161-48705162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577522161	chr12:48705164-48705165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543074666	chr12:48705186-48705187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563735104	chr12:48705187-48705188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185392732	chr12:48705236-48705237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368233279	chr12:48705246-48705247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560994686	chr12:48705287-48705288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549426902	chr12:48705327-48705328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559979833	chr12:48705425-48705426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138676892	chr12:48705451-48705452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551796256	chr12:48705470-48705471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149254082	chr12:48705504-48705505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537549801	chr12:48705527-48705528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375399819	chr12:48705554-48705555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141281009	chr12:48705580-48705581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563071829	chr12:48705581-48705582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34714994	chr12:48705596-48705597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551100290	chr12:48705625-48705626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76393631	chr12:48705637-48705638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs569771196	chr12:48705652-48705653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527382997	chr12:48705742-48705743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535624536	chr12:48705781-48705782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181054833	chr12:48705806-48705807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77212297	chr12:48705824-48705825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs144431473	chr12:48705857-48705858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568299590	chr12:48705903-48705904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577171451	chr12:48705932-48705933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540136716	chr12:48705938-48705939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376222018	chr12:48705939-48705940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48699800-48705000	Weak transcription	Fetal Heart	heart
2	chr12:48704000-48706200	Enhancers	K562	blood
3	chr12:48705000-48705400	Enhancers	Fetal Heart	heart
4	chr12:48705200-48705400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:48705200-48705600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr12:48705200-48706000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:48705400-48707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:48707800-48708000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48707800-48708000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:48708000-48709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:48709600-48710000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:48709600-48710200	Weak transcription	Stomach Smooth Muscle	stomach

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