Variant report

Variant	nsv558152
Chromosome Location	chr12:32007106-32074398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:725)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:725 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:32007038-32007368	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:32013397-32013717	HepG2	liver:	n/a	n/a
3	ATF1	chr12:32049547-32049913	K562	blood:	n/a	n/a
4	ATF2	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
5	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
6	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
7	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
8	ATF2	chr12:32049321-32050102	GM12878	blood:	n/a	n/a
9	ATF2	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32028192-32028592	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
12	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
13	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
14	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
15	BATF	chr12:32028347-32028606	GM12878	blood:	n/a	chr12:32028517-32028528
16	BATF	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
17	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
18	BATF	chr12:32049428-32049899	GM12878	blood:	n/a	n/a
19	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
20	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:32049507-32049881	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
24	BCL3	chr12:32049369-32049919	GM12878	blood:	n/a	n/a
25	BCL3	chr12:32012394-32012917	GM12878	blood:	n/a	n/a
26	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
28	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
31	BCLAF1	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
33	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a
34	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
35	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
36	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
39	CBX3	chr12:32049394-32050026	K562	blood:	n/a	n/a
40	CBX3	chr12:32059717-32060200	HCT-116	colon:	n/a	n/a
41	CBX3	chr12:32059702-32060122	K562	blood:	n/a	n/a
42	CBX3	chr12:32040345-32040748	K562	blood:	n/a	n/a
43	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
44	CBX3	chr12:32068338-32068857	K562	blood:	n/a	n/a
45	CBX3	chr12:32050702-32051189	K562	blood:	n/a	n/a
46	CBX3	chr12:32068426-32068695	K562	blood:	n/a	n/a
47	CBX3	chr12:32029552-32030076	K562	blood:	n/a	n/a
48	CBX3	chr12:32045083-32045446	K562	blood:	n/a	n/a
49	CBX3	chr12:32059753-32060189	HCT-116	colon:	n/a	n/a
50	CCNT2	chr12:32033345-32033608	K562	blood:	n/a	chr12:32033552-32033572

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:32003812..32007387-chr12:32010341..32012984,3	K562	blood:
2	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
3	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
4	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
5	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
6	chr12:32009885..32011999-chr12:32112315..32115076,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-2	chr12:32057604-32058166	NONHSAT027580
2	lnc-C12orf35-11	chr12:32014294-32015157	NONHSAT027582
3	lnc-H3F3C-2	chr12:32040101-32040159	XLOC_010046
4	lnc-C12orf35-10	chr12:32021854-32021922	NONHSAT027583
5	lnc-H3F3C-6	chr12:32069002-32069098	NONHSAT027589
6	lnc-H3F3C-2	chr12:32030013-32030827	NONHSAT027580
7	lnc-C12orf35-10	chr12:32021031-32021221	NONHSAT027583
8	lnc-C12orf35-9	chr12:32046304-32046636	NONHSAT027586
9	lnc-H3F3C-2	chr12:32068298-32068616	NONHSAT027580
10	lnc-H3F3C-2	chr12:32031137-32031852	NONHSAT027580
11	lnc-H3F3C-6	chr12:32068728-32068779	NONHSAT027589
12	lnc-H3F3C-2	chr12:32026186-32026629	XLOC_010046
13	lnc-C12orf35-11	chr12:32013251-32013329	NONHSAT027582

No data

Variant related genes	Relation type
ENSG00000244436	TF binding region
ENSG00000255760	TF binding region
ENSG00000256372	TF binding region
ENSG00000256465	TF binding region
ENSG00000252584	TF binding region
ENSG00000174718	chromatin interactions
ENSG00000256372	chromatin interactions

Extended variants
information (count: 2884 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2884 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4931576	chr12:32007106-32007107	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372052363	chr12:32007123-32007124	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61929434	chr12:32007146-32007147	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549205126	chr12:32007153-32007154	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs568948253	chr12:32007190-32007191	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545488412	chr12:32007240-32007241	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148744032	chr12:32007268-32007269	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571700128	chr12:32007316-32007317	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs551388616	chr12:32007355-32007356	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs73075939	chr12:32007423-32007424	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs377494506	chr12:32007426-32007427	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1259704	chr12:32007427-32007428	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs147833944	chr12:32007458-32007459	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs536341384	chr12:32007477-32007478	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs111577534	chr12:32007504-32007505	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs373706869	chr12:32007505-32007506	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553551031	chr12:32007546-32007547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs11835160	chr12:32007579-32007580	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531875218	chr12:32007592-32007593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs71455687	chr12:32007601-32007602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs112972782	chr12:32007604-32007605	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562091862	chr12:32007640-32007641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150927842	chr12:32007699-32007700	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs77955556	chr12:32007707-32007708	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs185659848	chr12:32007710-32007711	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs7978790	chr12:32007719-32007720	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs529023930	chr12:32007733-32007734	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs57080228	chr12:32007736-32007737	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs562555972	chr12:32007749-32007750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531422067	chr12:32007757-32007758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs551538207	chr12:32007767-32007768	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs7978879	chr12:32007769-32007770	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs113716442	chr12:32007808-32007809	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs138419108	chr12:32007809-32007810	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs547429991	chr12:32007818-32007819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567333342	chr12:32007912-32007913	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs11051629	chr12:32008040-32008041	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4486709	chr12:32008057-32008058	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs190722704	chr12:32008107-32008108	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs7953526	chr12:32008162-32008163	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148852960	chr12:32008164-32008165	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193032305	chr12:32008179-32008180	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs7953646	chr12:32008195-32008196	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs12315555	chr12:32008196-32008197	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572825675	chr12:32008203-32008204	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs79113571	chr12:32008206-32008207	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs78482962	chr12:32008241-32008242	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7953950	chr12:32008256-32008257	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs7953957	chr12:32008275-32008276	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573559643	chr12:32008278-32008279	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	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:748 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32005800-32007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:32005800-32008400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:32005800-32008400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:32006000-32007200	Enhancers	Adipose Nuclei	Adipose
5	chr12:32006200-32008000	Weak transcription	Primary B cells from cord blood	blood
6	chr12:32006200-32008400	Enhancers	Placenta	Placenta
7	chr12:32006400-32008200	Enhancers	HepG2	liver
8	chr12:32006400-32009400	Enhancers	Liver	Liver
9	chr12:32006800-32008400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:32007000-32007600	Enhancers	Hela-S3	cervix
11	chr12:32007200-32007600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:32007200-32008200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:32007200-32012000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:32008000-32008400	ZNF genes & repeats	Primary B cells from cord blood	blood
15	chr12:32008200-32008400	Enhancers	Adipose Nuclei	Adipose
16	chr12:32008200-32013000	Weak transcription	HepG2	liver
17	chr12:32008400-32008600	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:32008400-32009600	Weak transcription	Primary B cells from cord blood	blood
19	chr12:32009000-32009800	ZNF genes & repeats	Thymus	Thymus
20	chr12:32009400-32011000	Weak transcription	Liver	Liver
21	chr12:32009600-32009800	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr12:32009800-32011000	Weak transcription	Primary B cells from cord blood	blood
23	chr12:32009800-32017200	Weak transcription	Thymus	Thymus
24	chr12:32011000-32011400	Enhancers	Liver	Liver
25	chr12:32011000-32011600	ZNF genes & repeats	Primary B cells from cord blood	blood
26	chr12:32011400-32012800	Weak transcription	Liver	Liver
27	chr12:32011600-32012400	Weak transcription	Primary B cells from cord blood	blood
28	chr12:32012000-32012600	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr12:32012000-32013000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
30	chr12:32012200-32013400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:32012200-32013600	ZNF genes & repeats	GM12878-XiMat	blood
32	chr12:32012200-32013800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr12:32012400-32013800	Enhancers	Primary B cells from cord blood	blood
34	chr12:32012600-32013200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:32012600-32013600	Enhancers	Primary B cells from peripheral blood	blood
36	chr12:32012800-32013200	Enhancers	Liver	Liver
37	chr12:32013000-32013400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr12:32013000-32014000	Enhancers	HepG2	liver
39	chr12:32013200-32013600	Flanking Active TSS	Liver	Liver
40	chr12:32013200-32020400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:32013400-32014000	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr12:32013400-32014400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:32013600-32014800	Enhancers	Liver	Liver
44	chr12:32013600-32019600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr12:32013800-32014600	Weak transcription	Primary B cells from cord blood	blood
46	chr12:32014400-32014600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:32019000-32020200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:32019400-32020400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:32019600-32020600	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr12:32019600-32023400	Enhancers	Primary B cells from peripheral blood	blood

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