Variant report

Variant	esv2762970
Chromosome Location	chr12:31950446-31960715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:31956928-31957459	GM12878	blood:	n/a	n/a
2	ATF3	chr12:31960655-31960820	GM12878	blood:	n/a	n/a
3	ATF3	chr12:31960500-31960895	GM12878	blood:	n/a	n/a
4	BATF	chr12:31957043-31957422	GM12878	blood:	n/a	n/a
5	BATF	chr12:31957019-31957431	GM12878	blood:	n/a	n/a
6	BCL11A	chr12:31957139-31957320	GM12878	blood:	n/a	n/a
7	BCL11A	chr12:31957022-31957369	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:31959897-31960934	GM12878	blood:	n/a	n/a
9	BHLHE40	chr12:31957050-31957414	GM12878	blood:	n/a	n/a
10	BRCA1	chr12:31960519-31960597	GM12878	blood:	n/a	n/a
11	CEBPB	chr12:31959392-31959420	IMR90	lung:	n/a	chr12:31959398-31959409
12	CHD1	chr12:31957083-31957326	GM12878	blood:	n/a	n/a
13	CHD1	chr12:31959908-31960927	GM12878	blood:	n/a	n/a
14	CHD2	chr12:31957046-31957443	GM12878	blood:	n/a	n/a
15	CHD2	chr12:31959862-31960902	GM12878	blood:	n/a	n/a
16	CUX1	chr12:31960623-31960949	GM12878	blood:	n/a	n/a
17	CUX1	chr12:31957071-31957481	GM12878	blood:	n/a	n/a
18	EBF1	chr12:31956960-31957507	GM12878	blood:	n/a	n/a
19	EBF1	chr12:31959914-31960851	GM12878	blood:	n/a	n/a
20	ELK1	chr12:31960036-31960236	GM12878	blood:	n/a	n/a
21	ELK1	chr12:31956905-31957135	GM12878	blood:	n/a	n/a
22	EP300	chr12:31959949-31960881	GM12878	blood:	n/a	n/a
23	EP300	chr12:31959909-31960964	GM12878	blood:	n/a	n/a
24	EP300	chr12:31956795-31957422	GM12878	blood:	n/a	n/a
25	EP300	chr12:31957017-31957488	GM12878	blood:	n/a	n/a
26	EP300	chr12:31957129-31957319	GM12878	blood:	n/a	n/a
27	EP300	chr12:31959906-31960890	GM12878	blood:	n/a	n/a
28	FOXM1	chr12:31956976-31957479	GM12878	blood:	n/a	n/a
29	GATA3	chr12:31956536-31956826	MCF-7	breast:	n/a	n/a
30	GATA3	chr12:31956861-31957292	T-47D	breast:	n/a	chr12:31956955-31956963 chr12:31956896-31956906
31	HEY1	chr12:31958085-31958208	HepG2	liver:	n/a	n/a
32	HEY1	chr12:31958048-31958245	HepG2	liver:	n/a	n/a
33	HEY1	chr12:31957810-31957972	HepG2	liver:	n/a	n/a
34	IKZF1	chr12:31956850-31957422	GM12878	blood:	n/a	n/a
35	IKZF1	chr12:31960439-31960985	GM12878	blood:	n/a	n/a
36	IRF4	chr12:31956970-31957441	GM12878	blood:	n/a	n/a
37	IRF4	chr12:31956983-31957423	GM12878	blood:	n/a	n/a
38	MAFF	chr12:31956318-31956538	HepG2	liver:	n/a	chr12:31956429-31956447
39	MAFF	chr12:31956337-31956572	K562	blood:	n/a	chr12:31956429-31956447
40	MAFK	chr12:31956286-31956593	HepG2	liver:	n/a	n/a
41	MAFK	chr12:31956324-31956559	IMR90	lung:	n/a	n/a
42	MAFK	chr12:31956337-31956516	K562	blood:	n/a	n/a
43	MAFK	chr12:31956290-31956616	HepG2	liver:	n/a	n/a
44	MAX	chr12:31957336-31957491	GM12878	blood:	n/a	n/a
45	MAX	chr12:31959969-31960922	GM12878	blood:	n/a	n/a
46	MAZ	chr12:31957134-31957339	GM12878	blood:	n/a	n/a
47	MAZ	chr12:31959865-31960958	GM12878	blood:	n/a	n/a
48	MXI1	chr12:31959887-31961043	GM12878	blood:	n/a	n/a
49	MXI1	chr12:31957033-31957462	GM12878	blood:	n/a	n/a
50	NFATC1	chr12:31960224-31960757	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:31958950-31959000	HNPCEpiC	eye:	n/a
2	chr12:31958950-31959000	ECC-1	luminal epithelium:	n/a
3	chr12:31958950-31959000	AG09319	gingival:	n/a
4	chr12:31958950-31959000	HRCEpiC	kidney:	n/a
5	chr12:31958950-31959000	HMEC	breast:	n/a
6	chr12:31958950-31959000	SAEC	small airway:	n/a
7	chr12:31958950-31959000	HIPEpiC	eye:	n/a
8	chr12:31958950-31959000	AG09309	skin:	n/a
9	chr12:31958950-31959000	Jurkat	blood:	n/a
10	chr12:31958950-31959000	GM19239	blood:	n/a
11	chr12:31958950-31959000	HRPEpiC	eye:	n/a
12	chr12:31958950-31959000	HEK293	kidney:	embryo
13	chr12:31958950-31959000	AG04450	lung:	fetal
14	chr12:31958950-31959000	BE2_C	brain:	n/a
15	chr12:31958950-31959000	SK-N-SH	brain:	n/a
16	chr12:31958950-31959000	NH-A	brain:	n/a
17	chr12:31958950-31959000	AoSMC	blood vessel:	n/a
18	chr12:31958950-31959000	HL-60	blood:	n/a
19	chr12:31958950-31959000	T-47D	breast:	n/a
20	chr12:31958950-31959000	K562	blood:	n/a
21	chr12:31958950-31959000	GM06990	blood:	n/a
22	chr12:31958950-31959000	AG10803	skin:	n/a
23	chr12:31958950-31959000	MCF10A-Er-Src	breast:	n/a
24	chr12:31958950-31959000	NHDF-neo	bronchial:	n/a
25	chr12:31958950-31959000	HCPEpiC	choroid plexus:	n/a
26	chr12:31958950-31959000	HCF	heart:	n/a
27	chr12:31958950-31959000	NB4	blood:	n/a
28	chr12:31958950-31959000	NHBE	bronchial:	n/a
29	chr12:31958950-31959000	LNCaP	prostate:	n/a
30	chr12:31958950-31959000	IMR90	lung:	fetal
31	chr12:31958950-31959000	PFSK-1	brain:	n/a
32	chr12:31958950-31959000	PrEC	prostate:	n/a
33	chr12:31958950-31959000	Caco-2	colon:	n/a
34	chr12:31958950-31959000	GM12891	blood:	n/a
35	chr12:31958950-31959000	Hela-S3	cervix:	n/a
36	chr12:31958950-31959000	H1-hESC	embryonic stem cell:	embryo
37	chr12:31958950-31959000	PANC-1	pancreas:	n/a
38	chr12:31958950-31959000	RPTEC	kidney:	n/a
39	chr12:31958950-31959000	HUVEC	blood vessel:	n/a
40	chr12:31958950-31959000	HAEpiC	amniotic membrane:	n/a
41	chr12:31958950-31959000	SK-N-SH_RA	brain:	n/a
42	chr12:31958950-31959000	BJ	skin:	n/a
43	chr12:31958950-31959000	HEEpiC	esophagus:	n/a
44	chr12:31958950-31959000	A549	lung:	n/a
45	chr12:31958950-31959000	GM12878	blood:	n/a
46	chr12:31958950-31959000	HCT-116	colon:	n/a
47	chr12:31958950-31959000	GM12892	blood:	n/a
48	chr12:31958950-31959000	ProgFib	skin:	n/a
49	chr12:31958950-31959000	NT2-D1	testis:	n/a
50	chr12:31958950-31959000	CMK	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000252204	TF binding region
RNU6-1069P	TF binding region
ENSG00000252204	CpG island
RNU6-1069P	CpG island

Extended variants
information (count: 528 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576913833	chr12:31950489-31950490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545773717	chr12:31950498-31950499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552839434	chr12:31950558-31950559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572871909	chr12:31950581-31950582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541691191	chr12:31950697-31950698	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144362804	chr12:31950739-31950740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs530572453	chr12:31950866-31950867	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185378724	chr12:31950886-31950887	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35313226	chr12:31950905-31950906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs397850164	chr12:31950911-31950912	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs3862409	chr12:31950931-31950932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs147826959	chr12:31950962-31950963	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533220700	chr12:31950974-31950975	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148900612	chr12:31950995-31950996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs566889021	chr12:31950997-31950998	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529406963	chr12:31951002-31951003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117631580	chr12:31951037-31951038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59382471	chr12:31951048-31951049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538399525	chr12:31951070-31951071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116485575	chr12:31951082-31951083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190401798	chr12:31951094-31951095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527566963	chr12:31951118-31951119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116003978	chr12:31951133-31951134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552916475	chr12:31951200-31951201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572714553	chr12:31951223-31951224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4015418	chr12:31951237-31951238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555005254	chr12:31951247-31951248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544677389	chr12:31951254-31951255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59953784	chr12:31951277-31951278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374828421	chr12:31951280-31951281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4565991	chr12:31951317-31951318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs577855179	chr12:31951327-31951328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540124773	chr12:31951334-31951335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577968967	chr12:31951338-31951339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560554317	chr12:31951399-31951400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545114785	chr12:31951406-31951407	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560826379	chr12:31951430-31951431	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368349790	chr12:31951450-31951451	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374222963	chr12:31951451-31951452	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs57975242	chr12:31951454-31951455	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534350470	chr12:31951477-31951478	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs568432074	chr12:31951519-31951520	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs150926258	chr12:31951578-31951579	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs549291489	chr12:31951586-31951587	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs562959333	chr12:31951626-31951627	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs531989105	chr12:31951712-31951713	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs11051597	chr12:31951768-31951769	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs571880796	chr12:31951787-31951788	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181677724	chr12:31951799-31951800	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547728908	chr12:31951811-31951812	Weak transcription	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31942800-31956600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:31949200-31950600	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:31949200-31950800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr12:31949200-31951000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:31949200-31951400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:31949400-31950800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr12:31949400-31951000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:31949400-31951000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:31949400-31951200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:31949400-31951200	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:31949600-31950600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:31949600-31950800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:31949600-31951200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:31950000-31950600	Enhancers	Spleen	Spleen
15	chr12:31950000-31950800	Enhancers	Fetal Thymus	thymus
16	chr12:31950200-31950600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:31950200-31954400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:31950400-31950800	Enhancers	Dnd41	blood
19	chr12:31950400-31951000	Enhancers	Primary T cells from cord blood	blood
20	chr12:31950400-31951000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:31950600-31951000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr12:31950600-31956600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:31950600-31956600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:31950800-31954200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:31950800-31956200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:31950800-31956800	Weak transcription	Dnd41	blood
27	chr12:31951000-31953600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:31951000-31954200	Weak transcription	Primary T cells from cord blood	blood
29	chr12:31951000-31954400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:31951000-31954600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:31951000-31955000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr12:31951200-31954800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr12:31951200-31955000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:31951200-31955000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:31951400-31951800	Active TSS	Placenta	Placenta
36	chr12:31951400-31956800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:31953600-31956000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:31954200-31954400	Enhancers	Primary T cells from cord blood	blood
39	chr12:31954200-31954800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr12:31954400-31954600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:31954400-31954800	Weak transcription	Primary T cells from cord blood	blood
42	chr12:31954400-31955600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:31954600-31956800	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr12:31954600-31957800	Enhancers	Fetal Thymus	thymus
45	chr12:31954600-31962000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:31954800-31955800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr12:31954800-31956400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr12:31954800-31957200	Enhancers	Primary T cells from cord blood	blood
49	chr12:31955000-31955400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:31955000-31955400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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