Variant report

Variant	nsv541450
Chromosome Location	chr12:31997847-32053993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:760)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:32013397-32013717	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:32007038-32007368	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:31998558-31999192	HepG2	liver:	n/a	n/a
4	ATF1	chr12:32049547-32049913	K562	blood:	n/a	n/a
5	ATF2	chr12:32028192-32028592	GM12878	blood:	n/a	n/a
6	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
7	ATF2	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
8	ATF2	chr12:32049321-32050102	GM12878	blood:	n/a	n/a
9	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
12	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
13	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
14	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
15	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
16	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
17	BATF	chr12:32028347-32028606	GM12878	blood:	n/a	chr12:32028517-32028528
18	BATF	chr12:32049428-32049899	GM12878	blood:	n/a	n/a
19	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
20	BCL11A	chr12:32049507-32049881	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
23	BCL3	chr12:32012394-32012917	GM12878	blood:	n/a	n/a
24	BCL3	chr12:32049369-32049919	GM12878	blood:	n/a	n/a
25	BCLAF1	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
26	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
28	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
30	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
31	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
33	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:31998502-31998558	K562	blood:	n/a	n/a
35	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a
38	CBX3	chr12:32002133-32002441	HCT-116	colon:	n/a	n/a
39	CBX3	chr12:32003214-32003622	K562	blood:	n/a	n/a
40	CBX3	chr12:32049394-32050026	K562	blood:	n/a	n/a
41	CBX3	chr12:32002024-32002350	K562	blood:	n/a	n/a
42	CBX3	chr12:32003236-32003600	K562	blood:	n/a	n/a
43	CBX3	chr12:32029552-32030076	K562	blood:	n/a	n/a
44	CBX3	chr12:32050702-32051189	K562	blood:	n/a	n/a
45	CBX3	chr12:32040345-32040748	K562	blood:	n/a	n/a
46	CBX3	chr12:32001974-32002465	HCT-116	colon:	n/a	n/a
47	CBX3	chr12:32045083-32045446	K562	blood:	n/a	n/a
48	CCNT2	chr12:32033345-32033608	K562	blood:	n/a	chr12:32033552-32033572
49	CCNT2	chr12:31998682-31998935	K562	blood:	n/a	n/a
50	CCNT2	chr12:32049628-32049990	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:31879460..31882870-chr12:31994967..32002077,7	K562	blood:
2	chr12:32009885..32011999-chr12:32112315..32115076,2	MCF-7	breast:
3	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
4	chr12:31879460..31881406-chr12:31997211..31999546,2	K562	blood:
5	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
6	chr12:31881032..31882626-chr12:31999640..32002077,2	K562	blood:
7	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
8	chr12:32003812..32007387-chr12:32010341..32012984,3	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf35-11	chr12:32014294-32015157	NONHSAT027582
2	lnc-H3F3C-2	chr12:32040101-32040159	XLOC_010046
3	lnc-H3F3C-2	chr12:32030013-32030827	NONHSAT027580
4	lnc-C12orf35-9	chr12:32046304-32046636	NONHSAT027586
5	lnc-H3F3C-5	chr12:32005955-32006341	NONHSAT027581
6	lnc-C12orf35-10	chr12:32021031-32021221	NONHSAT027583
7	lnc-C12orf35-10	chr12:32021854-32021922	NONHSAT027583
8	lnc-C12orf35-11	chr12:32013251-32013329	NONHSAT027582
9	lnc-H3F3C-2	chr12:32026186-32026629	XLOC_010046
10	lnc-H3F3C-2	chr12:32031137-32031852	NONHSAT027580

No data

Variant related genes	Relation type
ENSG00000244436	TF binding region
ENSG00000255760	TF binding region
ENSG00000256372	TF binding region
ENSG00000256465	TF binding region
ENSG00000174718	chromatin interactions
ENSG00000256372	chromatin interactions
ENSG00000151743	chromatin interactions

Extended variants
information (count: 2404 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2404 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554190217	chr12:31997859-31997860	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75512933	chr12:31997862-31997863	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542972568	chr12:31997924-31997925	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556661742	chr12:31997930-31997931	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2186010	chr12:31997981-31997982	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs561555482	chr12:31998029-31998030	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545714685	chr12:31998037-31998038	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559477597	chr12:31998072-31998073	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs377381462	chr12:31998073-31998074	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7962860	chr12:31998112-31998113	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542138338	chr12:31998115-31998116	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7963096	chr12:31998135-31998136	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138683836	chr12:31998137-31998138	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564698850	chr12:31998150-31998151	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550964310	chr12:31998215-31998216	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562456842	chr12:31998225-31998226	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576668906	chr12:31998238-31998239	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs12822288	chr12:31998241-31998242	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533447575	chr12:31998264-31998265	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546904206	chr12:31998265-31998266	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1259778	chr12:31998272-31998273	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs535786804	chr12:31998302-31998303	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs530092499	chr12:31998323-31998324	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184587153	chr12:31998356-31998357	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs139579715	chr12:31998367-31998368	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536665026	chr12:31998373-31998374	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149390645	chr12:31998440-31998441	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576894005	chr12:31998442-31998443	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539520205	chr12:31998443-31998444	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35169933	chr12:31998488-31998489	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573005629	chr12:31998514-31998515	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs144792643	chr12:31998549-31998550	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531181065	chr12:31998558-31998559	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs148584081	chr12:31998560-31998561	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374004830	chr12:31998571-31998572	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11051626	chr12:31998604-31998605	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs116996367	chr12:31998652-31998653	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535278971	chr12:31998656-31998657	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570285163	chr12:31998693-31998694	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143000999	chr12:31998704-31998705	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552388417	chr12:31998705-31998706	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146540933	chr12:31998752-31998753	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547062126	chr12:31998774-31998775	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12823413	chr12:31998782-31998783	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs35554955	chr12:31998791-31998792	ZNF genes & repeats Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529448073	chr12:31998802-31998803	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549132429	chr12:31998815-31998816	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527439609	chr12:31998897-31998898	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569245826	chr12:31998940-31998941	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565671716	chr12:31998992-31998993	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:764 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31985600-32000800	Weak transcription	Thymus	Thymus
2	chr12:31996400-32004400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:31996600-31998400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
4	chr12:31997000-32000600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:31997800-31999600	ZNF genes & repeats	Primary B cells from cord blood	blood
6	chr12:31997800-31999800	Enhancers	HepG2	liver
7	chr12:31997800-32000800	Weak transcription	Adipose Nuclei	Adipose
8	chr12:31998000-32000000	Enhancers	Placenta	Placenta
9	chr12:31998200-31998600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:31998400-31998600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:31998400-31998600	Enhancers	Pancreas	Pancrea
12	chr12:31998400-31998600	Active TSS	A549	lung
13	chr12:31998400-31999600	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:31998400-31999800	Enhancers	K562	blood
15	chr12:31998600-31998800	Enhancers	A549	lung
16	chr12:31998600-31999400	Weak transcription	Pancreas	Pancrea
17	chr12:31998800-31999000	Flanking Active TSS	A549	lung
18	chr12:31998800-32000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:31999000-31999200	Enhancers	A549	lung
20	chr12:31999400-31999800	Enhancers	Pancreas	Pancrea
21	chr12:31999600-31999800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:31999600-32000600	Weak transcription	Primary B cells from cord blood	blood
23	chr12:31999800-32000000	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:32000000-32000400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:32000200-32001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:32000600-32002400	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr12:32000800-32001000	ZNF genes & repeats	Thymus	Thymus
28	chr12:32000800-32001400	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr12:32000800-32002000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:32000800-32004000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr12:32001800-32004200	ZNF genes & repeats	Dnd41	blood
32	chr12:32002000-32006400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr12:32003600-32005200	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr12:32004800-32005200	Active TSS	Liver	Liver
35	chr12:32005000-32005800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
36	chr12:32005200-32006000	Enhancers	Liver	Liver
37	chr12:32005200-32006200	Strong transcription	Primary B cells from cord blood	blood
38	chr12:32005800-32007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:32005800-32008400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:32005800-32008400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:32006000-32006400	Flanking Active TSS	Liver	Liver
42	chr12:32006000-32007200	Enhancers	Adipose Nuclei	Adipose
43	chr12:32006200-32007000	Enhancers	Brain Substantia Nigra	brain
44	chr12:32006200-32008000	Weak transcription	Primary B cells from cord blood	blood
45	chr12:32006200-32008400	Enhancers	Placenta	Placenta
46	chr12:32006400-32006800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:32006400-32008200	Enhancers	HepG2	liver
48	chr12:32006400-32009400	Enhancers	Liver	Liver
49	chr12:32006800-32008400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr12:32007000-32007600	Enhancers	Hela-S3	cervix

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