Variant report

Variant	nsv515743
Chromosome Location	chr12:121540346-121541831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:121540266-121540454	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121540942..121542575-chr12:121550109..121552835,2	K562	blood:

Variant related genes	Relation type
ENSG00000201945	TF binding region
ENSG00000223538	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1796421	chr12:121540346-121540347	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539046750	chr12:121540348-121540349	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs1794897	chr12:121540367-121540368	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375764986	chr12:121540495-121540496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1794898	chr12:121540531-121540532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377564651	chr12:121540563-121540564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564694589	chr12:121540633-121540634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543196178	chr12:121540638-121540639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73421515	chr12:121540642-121540643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555201780	chr12:121540650-121540651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573521584	chr12:121540721-121540722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540914511	chr12:121540722-121540723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565607831	chr12:121540746-121540747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372463213	chr12:121540834-121540835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377252917	chr12:121540873-121540874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535580882	chr12:121540885-121540886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113300777	chr12:121540888-121540889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201612414	chr12:121540902-121540903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143172779	chr12:121541068-121541069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12310981	chr12:121541073-121541074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376571666	chr12:121541091-121541092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535331858	chr12:121541103-121541104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386767017	chr12:121541160-121541161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67027061	chr12:121541162-121541163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181625845	chr12:121541202-121541203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546459927	chr12:121541257-121541258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34638731	chr12:121541298-121541299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs66527938	chr12:121541299-121541300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57173324	chr12:121541313-121541314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12371143	chr12:121541314-121541315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368114170	chr12:121541315-121541316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78982731	chr12:121541318-121541319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571535472	chr12:121541352-121541353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538617221	chr12:121541371-121541372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2464842	chr12:121541397-121541398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556687781	chr12:121541436-121541437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112860605	chr12:121541459-121541460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146231196	chr12:121541483-121541484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555138369	chr12:121541509-121541510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573456209	chr12:121541524-121541525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111652318	chr12:121541525-121541526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558943086	chr12:121541537-121541538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577466485	chr12:121541554-121541555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35987962	chr12:121541568-121541569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573643243	chr12:121541593-121541594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375547732	chr12:121541594-121541595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142447059	chr12:121541683-121541684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77351859	chr12:121541688-121541689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1796412	chr12:121541712-121541713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs371649993	chr12:121541730-121541731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121534000-121545200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:121539800-121540600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:121540000-121540400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:121541800-121542200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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