Variant report

Variant	nsv983322
Chromosome Location	chr12:50759435-50759935
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:50759671-50759672	K562	blood:	n/a	n/a
2	CEBPB	chr12:50759539-50759844	K562	blood:	n/a	n/a
3	CEBPD	chr12:50759437-50759876	K562	blood:	n/a	n/a
4	CUX1	chr12:50759474-50759763	K562	blood:	n/a	n/a
5	EP300	chr12:50759658-50759730	K562	blood:	n/a	n/a
6	EP300	chr12:50759490-50760001	K562	blood:	n/a	n/a
7	GATA2	chr12:50759397-50759980	K562	blood:	n/a	n/a
8	JUND	chr12:50759684-50759729	K562	blood:	n/a	n/a
9	MAFF	chr12:50759831-50760180	K562	blood:	n/a	chr12:50759986-50760000 chr12:50759980-50759998
10	MAFF	chr12:50759877-50760019	HepG2	liver:	n/a	chr12:50759986-50760000 chr12:50759980-50759998
11	MAFK	chr12:50759913-50760127	HepG2	liver:	n/a	chr12:50759985-50760001 chr12:50759983-50760003
12	MAFK	chr12:50759888-50760147	HepG2	liver:	n/a	chr12:50759985-50760001 chr12:50759983-50760003
13	MAX	chr12:50759661-50759751	K562	blood:	n/a	n/a
14	MAX	chr12:50759409-50759851	K562	blood:	n/a	n/a
15	MYC	chr12:50759462-50759772	K562	blood:	n/a	n/a
16	MYC	chr12:50759557-50759750	K562	blood:	n/a	n/a
17	MYC	chr12:50759710-50759751	K562	blood:	n/a	n/a
18	NR2F2	chr12:50759447-50759882	K562	blood:	n/a	n/a
19	NR2F2	chr12:50759313-50759951	K562	blood:	n/a	n/a
20	POLR2A	chr12:50759526-50759836	K562	blood:	n/a	n/a
21	POLR2A	chr12:50759485-50759857	K562	blood:	n/a	n/a
22	RCOR1	chr12:50759540-50759865	K562	blood:	n/a	n/a
23	RCOR1	chr12:50759546-50759554	K562	blood:	n/a	n/a
24	REST	chr12:50759518-50759810	K562	blood:	n/a	n/a
25	STAT5A	chr12:50759444-50759936	K562	blood:	n/a	n/a
26	STAT5A	chr12:50759470-50759904	K562	blood:	n/a	n/a
27	TAL1	chr12:50759491-50759928	K562	blood:	n/a	n/a
28	TBL1XR1	chr12:50759657-50759743	K562	blood:	n/a	n/a
29	TBL1XR1	chr12:50759600-50759786	K562	blood:	n/a	n/a
30	TBP	chr12:50759438-50759810	K562	blood:	n/a	n/a
31	TEAD4	chr12:50759392-50759987	K562	blood:	n/a	n/a
32	TEAD4	chr12:50759445-50759928	K562	blood:	n/a	n/a
33	UBTF	chr12:50759530-50759581	K562	blood:	n/a	n/a
34	USF1	chr12:50759377-50759824	K562	blood:	n/a	n/a
35	ZMIZ1	chr12:50759601-50759904	K562	blood:	n/a	n/a
36	ZNF384	chr12:50759713-50759717	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50758172..50761780-chr12:50791230..50796188,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARP4-2	chr12:50759435-50759869	NONHSAT028208

No data

Variant related genes	Relation type
ENSG00000244266	TF binding region
ENSG00000161813	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376666931	chr12:50759436-50759437	Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs148080117	chr12:50759437-50759438	Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs557359156	chr12:50759443-50759444	Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs574105844	chr12:50759453-50759454	Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs543074546	chr12:50759507-50759508	Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs548528396	chr12:50759564-50759565	Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs577588351	chr12:50759574-50759575	Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs190584590	chr12:50759600-50759601	Flanking Active TSS Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs573500093	chr12:50759614-50759615	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs545579084	chr12:50759620-50759621	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs565339123	chr12:50759644-50759645	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs530479712	chr12:50759685-50759686	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs144829210	chr12:50759719-50759720	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs560519384	chr12:50759723-50759724	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs529619493	chr12:50759734-50759735	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs10783355	chr12:50759748-50759749	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566748248	chr12:50759792-50759793	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs143802231	chr12:50759797-50759798	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs181412435	chr12:50759812-50759813	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs554515952	chr12:50759911-50759912	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4768854	chr12:50759923-50759924	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	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
low-grade B-cell lymphoma tumor	18367492	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
Cancer	17160897	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50759200-50759600	Flanking Active TSS	K562	blood
2	chr12:50759600-50760200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links