Variant report

Variant	nsv558792
Chromosome Location	chr12:48703203-48710624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

No data

Extended variants
information (count: 246 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs716176	chr12:48703203-48703204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555860271	chr12:48703204-48703205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114582470	chr12:48703214-48703215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17825134	chr12:48703225-48703226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185518721	chr12:48703230-48703231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190229834	chr12:48703301-48703302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73291318	chr12:48703321-48703322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183175065	chr12:48703361-48703362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187461946	chr12:48703377-48703378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531369749	chr12:48703441-48703442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146723154	chr12:48703484-48703485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1387259	chr12:48703522-48703523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs370293688	chr12:48703576-48703577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116177654	chr12:48703689-48703690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116865279	chr12:48703725-48703726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573364004	chr12:48703727-48703728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570711581	chr12:48703760-48703761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148173658	chr12:48703801-48703802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550098530	chr12:48703844-48703845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192420540	chr12:48703905-48703906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75887155	chr12:48703998-48703999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555468061	chr12:48704016-48704017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566025453	chr12:48704069-48704070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146350968	chr12:48704083-48704084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534811213	chr12:48704088-48704089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558254207	chr12:48704124-48704125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577125478	chr12:48704204-48704205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546005262	chr12:48704219-48704220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150256377	chr12:48704220-48704221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541033867	chr12:48704280-48704281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112296288	chr12:48704307-48704308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576252367	chr12:48704318-48704319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183744318	chr12:48704319-48704320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552932725	chr12:48704379-48704380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187931543	chr12:48704388-48704389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571958324	chr12:48704441-48704442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73291321	chr12:48704444-48704445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192172338	chr12:48704448-48704449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533379630	chr12:48704451-48704452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17122906	chr12:48704474-48704475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs529132443	chr12:48704475-48704476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371616409	chr12:48704476-48704477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563679045	chr12:48704481-48704482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184005954	chr12:48704596-48704597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544458174	chr12:48704612-48704613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527689360	chr12:48704640-48704641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187191739	chr12:48704642-48704643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112297143	chr12:48704679-48704680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2634695	chr12:48704697-48704698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139206025	chr12:48704743-48704744	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48699800-48705000	Weak transcription	Fetal Heart	heart
2	chr12:48701200-48704000	Weak transcription	K562	blood
3	chr12:48702800-48703800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:48703200-48703400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:48703200-48704000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:48704000-48706200	Enhancers	K562	blood
7	chr12:48705000-48705400	Enhancers	Fetal Heart	heart
8	chr12:48705200-48705400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48705200-48705600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:48705200-48706000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:48705400-48707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:48707800-48708000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:48707800-48708000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:48708000-48709600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:48709600-48710000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:48709600-48710200	Weak transcription	Stomach Smooth Muscle	stomach

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