Variant report

Variant	nsv1038688
Chromosome Location	chr12:31998994-32068170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:778)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:778 , 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	chr12:32007038-32007368	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:31998558-31999192	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:32013397-32013717	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	chr12:32012425-32013045	GM12878	blood:	n/a	n/a
7	ATF2	chr12:32059435-32060240	GM12878	blood:	n/a	n/a
8	ATF2	chr12:32049321-32050102	GM12878	blood:	n/a	n/a
9	ATF2	chr12:32049229-32050151	GM12878	blood:	n/a	n/a
10	ATF2	chr12:32043462-32043919	GM12878	blood:	n/a	n/a
11	ATF2	chr12:32028105-32028579	GM12878	blood:	n/a	n/a
12	ATF2	chr12:32039867-32040549	GM12878	blood:	n/a	n/a
13	ATF2	chr12:32012430-32012848	GM12878	blood:	n/a	n/a
14	BATF	chr12:32041880-32042149	GM12878	blood:	n/a	n/a
15	BATF	chr12:32012446-32012948	GM12878	blood:	n/a	chr12:32012663-32012674
16	BATF	chr12:32028298-32028690	GM12878	blood:	n/a	chr12:32028517-32028528
17	BATF	chr12:32049428-32049899	GM12878	blood:	n/a	n/a
18	BATF	chr12:32028347-32028606	GM12878	blood:	n/a	chr12:32028517-32028528
19	BATF	chr12:32059572-32060170	GM12878	blood:	n/a	n/a
20	BATF	chr12:32049356-32049918	GM12878	blood:	n/a	n/a
21	BCL11A	chr12:32040083-32040458	GM12878	blood:	n/a	n/a
22	BCL11A	chr12:32040193-32040410	GM12878	blood:	n/a	n/a
23	BCL11A	chr12:32049507-32049881	GM12878	blood:	n/a	n/a
24	BCL11A	chr12:32049416-32049989	GM12878	blood:	n/a	n/a
25	BCL3	chr12:32012394-32012917	GM12878	blood:	n/a	n/a
26	BCL3	chr12:32049369-32049919	GM12878	blood:	n/a	n/a
27	BCLAF1	chr12:32028251-32028607	GM12878	blood:	n/a	n/a
28	BCLAF1	chr12:32049270-32049928	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:32039797-32040469	GM12878	blood:	n/a	chr12:32039937-32039946
30	BCLAF1	chr12:32012499-32012999	GM12878	blood:	n/a	n/a
31	BCLAF1	chr12:32059642-32060136	GM12878	blood:	n/a	n/a
32	BCLAF1	chr12:32049209-32050041	GM12878	blood:	n/a	n/a
33	BHLHE40	chr12:32048716-32048763	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:32050871-32051039	K562	blood:	n/a	n/a
35	BHLHE40	chr12:32049571-32049904	K562	blood:	n/a	n/a
36	BHLHE40	chr12:32039961-32040391	GM12878	blood:	n/a	n/a
37	BHLHE40	chr12:32049476-32050175	GM12878	blood:	n/a	n/a
38	BHLHE40	chr12:32012628-32013027	GM12878	blood:	n/a	n/a
39	BHLHE40	chr12:32043557-32043864	GM12878	blood:	n/a	n/a
40	CBX3	chr12:32049394-32050026	K562	blood:	n/a	n/a
41	CBX3	chr12:32003214-32003622	K562	blood:	n/a	n/a
42	CBX3	chr12:32002133-32002441	HCT-116	colon:	n/a	n/a
43	CBX3	chr12:32050702-32051189	K562	blood:	n/a	n/a
44	CBX3	chr12:32002024-32002350	K562	blood:	n/a	n/a
45	CBX3	chr12:32003236-32003600	K562	blood:	n/a	n/a
46	CBX3	chr12:32059753-32060189	HCT-116	colon:	n/a	n/a
47	CBX3	chr12:32059717-32060200	HCT-116	colon:	n/a	n/a
48	CBX3	chr12:32045083-32045446	K562	blood:	n/a	n/a
49	CBX3	chr12:32059772-32060064	K562	blood:	n/a	n/a
50	CBX3	chr12:32029552-32030076	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
2	chr12:32003812..32007387-chr12:32010341..32012984,3	K562	blood:
3	chr12:31879460..31881406-chr12:31997211..31999546,2	K562	blood:
4	chr12:32003812..32006453-chr12:32010341..32012776,2	K562	blood:
5	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:
6	chr12:32009885..32011999-chr12:32112315..32115076,2	MCF-7	breast:
7	chr12:32004133..32005677-chr12:32006398..32008295,2	K562	blood:
8	chr12:31879460..31882870-chr12:31994967..32002077,7	K562	blood:
9	chr12:31881032..31882626-chr12:31999640..32002077,2	K562	blood:
10	chr12:32056977..32058627-chr12:32060537..32062486,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-H3F3C-5	chr12:32005955-32006341	NONHSAT027581
2	lnc-C12orf35-9	chr12:32046304-32046636	NONHSAT027586
3	lnc-C12orf35-10	chr12:32021031-32021221	NONHSAT027583
4	lnc-C12orf35-11	chr12:32014294-32015157	NONHSAT027582
5	lnc-C12orf35-11	chr12:32013251-32013329	NONHSAT027582
6	lnc-H3F3C-2	chr12:32030013-32030827	NONHSAT027580
7	lnc-C12orf35-10	chr12:32021854-32021922	NONHSAT027583
8	lnc-H3F3C-2	chr12:32026186-32026629	XLOC_010046
9	lnc-H3F3C-2	chr12:32031137-32031852	NONHSAT027580
10	lnc-H3F3C-2	chr12:32040101-32040159	XLOC_010046
11	lnc-H3F3C-2	chr12:32057604-32058166	NONHSAT027580

No data

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

Extended variants
information (count: 2908 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:2908 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2128614	chr12:31998994-31998995	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550352898	chr12:31999060-31999061	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12146842	chr12:31999144-31999145	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs67820438	chr12:31999145-31999146	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs5797440	chr12:31999153-31999154	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201468441	chr12:31999171-31999172	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375175192	chr12:31999174-31999175	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192706968	chr12:31999220-31999221	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184881646	chr12:31999313-31999314	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140042353	chr12:31999317-31999318	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111641253	chr12:31999342-31999343	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs555583732	chr12:31999349-31999350	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575634907	chr12:31999418-31999419	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544489022	chr12:31999441-31999442	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564363653	chr12:31999446-31999447	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4931572	chr12:31999448-31999449	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540215106	chr12:31999472-31999473	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367631311	chr12:31999489-31999490	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529333368	chr12:31999566-31999567	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542841749	chr12:31999576-31999577	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs180837426	chr12:31999612-31999613	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10844027	chr12:31999647-31999648	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531924512	chr12:31999707-31999708	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552063448	chr12:31999708-31999709	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143607237	chr12:31999740-31999741	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146808137	chr12:31999788-31999789	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184807098	chr12:31999809-31999810	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111739271	chr12:31999853-31999854	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4931573	chr12:31999856-31999857	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189413538	chr12:31999858-31999859	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532483107	chr12:31999870-31999871	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140612390	chr12:31999871-31999872	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374285039	chr12:31999930-31999931	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569063694	chr12:31999945-31999946	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181776904	chr12:31999952-31999953	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373495981	chr12:31999953-31999954	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150347473	chr12:32000014-32000015	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559516540	chr12:32000069-32000070	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112643847	chr12:32000076-32000077	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553728946	chr12:32000138-32000139	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371145082	chr12:32000177-32000178	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375985649	chr12:32000178-32000179	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141543055	chr12:32000215-32000216	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114975257	chr12:32000240-32000241	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73075929	chr12:32000247-32000248	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs367998367	chr12:32000265-32000266	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111365273	chr12:32000270-32000271	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538568346	chr12:32000282-32000283	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563631779	chr12:32000293-32000294	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs113428291	chr12:32000319-32000320	ZNF genes & repeats Weak transcription	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:779 , 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	chr12:31997000-32000600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:31997800-31999600	ZNF genes & repeats	Primary B cells from cord blood	blood
5	chr12:31997800-31999800	Enhancers	HepG2	liver
6	chr12:31997800-32000800	Weak transcription	Adipose Nuclei	Adipose
7	chr12:31998000-32000000	Enhancers	Placenta	Placenta
8	chr12:31998400-31999600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr12:31998400-31999800	Enhancers	K562	blood
10	chr12:31998600-31999400	Weak transcription	Pancreas	Pancrea
11	chr12:31998800-31999000	Flanking Active TSS	A549	lung
12	chr12:31998800-32000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:31999000-31999200	Enhancers	A549	lung
14	chr12:31999400-31999800	Enhancers	Pancreas	Pancrea
15	chr12:31999600-31999800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:31999600-32000600	Weak transcription	Primary B cells from cord blood	blood
17	chr12:31999800-32000000	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:32000000-32000400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr12:32000200-32001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:32000600-32002400	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr12:32000800-32001000	ZNF genes & repeats	Thymus	Thymus
22	chr12:32000800-32001400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr12:32000800-32002000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:32000800-32004000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr12:32001800-32004200	ZNF genes & repeats	Dnd41	blood
26	chr12:32002000-32006400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr12:32003600-32005200	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr12:32004800-32005200	Active TSS	Liver	Liver
29	chr12:32005000-32005800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr12:32005200-32006000	Enhancers	Liver	Liver
31	chr12:32005200-32006200	Strong transcription	Primary B cells from cord blood	blood
32	chr12:32005800-32007400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:32005800-32008400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:32005800-32008400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:32006000-32006400	Flanking Active TSS	Liver	Liver
36	chr12:32006000-32007200	Enhancers	Adipose Nuclei	Adipose
37	chr12:32006200-32007000	Enhancers	Brain Substantia Nigra	brain
38	chr12:32006200-32008000	Weak transcription	Primary B cells from cord blood	blood
39	chr12:32006200-32008400	Enhancers	Placenta	Placenta
40	chr12:32006400-32006800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:32006400-32008200	Enhancers	HepG2	liver
42	chr12:32006400-32009400	Enhancers	Liver	Liver
43	chr12:32006800-32008400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr12:32007000-32007600	Enhancers	Hela-S3	cervix
45	chr12:32007200-32007600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:32007200-32008200	Weak transcription	Adipose Nuclei	Adipose
47	chr12:32007200-32012000	Weak transcription	Primary B cells from peripheral blood	blood
48	chr12:32008000-32008400	ZNF genes & repeats	Primary B cells from cord blood	blood
49	chr12:32008200-32008400	Enhancers	Adipose Nuclei	Adipose
50	chr12:32008200-32013000	Weak transcription	HepG2	liver

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