Variant report

Variant	rs133945
Chromosome Location	chr22:33402843-33402844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr22:33402585-33403219	MCF10A-Er-Src	breast:	n/a	chr22:33402811-33402818
2	MAZ	chr22:33402783-33402983	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:33402656-33402967	HepG2	liver:	n/a	n/a
4	HNF4A	chr22:33402554-33402952	HepG2	liver:	n/a	chr22:33402862-33402870
5	CEBPB	chr22:33402482-33402949	HepG2	liver:	n/a	chr22:33402765-33402778
6	POLR2A	chr22:33402453-33402969	MCF10A-Er-Src	breast:	n/a	n/a
7	RXRA	chr22:33402607-33403022	HepG2	liver:	n/a	n/a
8	STAT3	chr22:33402569-33403149	MCF10A-Er-Src	breast:	n/a	chr22:33402811-33402818
9	RFX5	chr22:33402833-33403062	HepG2	liver:	n/a	n/a
10	EP300	chr22:33402735-33402954	HepG2	liver:	n/a	chr22:33402859-33402869
11	STAT3	chr22:33402539-33403326	MCF10A-Er-Src	breast:	n/a	chr22:33402811-33402818
12	FOXA1	chr22:33402476-33403290	HepG2	liver:	n/a	chr22:33402858-33402873
13	HDAC2	chr22:33402524-33403049	HepG2	liver:	n/a	chr22:33402860-33402869
14	TEAD4	chr22:33402594-33403144	HepG2	liver:	n/a	n/a
15	SP1	chr22:33402548-33403096	HepG2	liver:	n/a	n/a
16	MYC	chr22:33402538-33403158	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr22:33402620-33403058	HepG2	liver:	n/a	chr22:33402726-33402739 chr22:33402859-33402869
18	HDAC2	chr22:33402462-33403034	HepG2	liver:	n/a	chr22:33402860-33402869
19	FOS	chr22:33402543-33403032	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr22:33402587-33403065	HepG2	liver:	n/a	chr22:33402765-33402778
21	MYBL2	chr22:33402553-33403096	HepG2	liver:	n/a	n/a
22	STAT3	chr22:33402588-33403200	MCF10A-Er-Src	breast:	n/a	chr22:33402811-33402818
23	FOXA1	chr22:33402506-33403121	HepG2	liver:	n/a	chr22:33402858-33402873
24	CEBPD	chr22:33402583-33402927	HepG2	liver:	n/a	n/a
25	FOXA2	chr22:33402690-33403013	A549	lung:	n/a	n/a
26	FOS	chr22:33402585-33403196	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr22:33402575-33402961	HepG2	liver:	n/a	chr22:33402765-33402778
28	CEBPB	chr22:33402603-33403015	MCF-7	breast:	n/a	chr22:33402765-33402778
29	FOXA1	chr22:33402513-33403204	HepG2	liver:	n/a	chr22:33402858-33402873
30	ZEB1	chr22:33402289-33403045	HepG2	liver:	n/a	n/a
31	POLR2A	chr22:33402733-33402901	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXA1	chr22:33402499-33403159	HepG2	liver:	n/a	chr22:33402858-33402873
33	MAFK	chr22:33402654-33403073	HepG2	liver:	n/a	n/a
34	HNF4G	chr22:33402620-33402953	HepG2	liver:	n/a	chr22:33402862-33402870
35	MAFK	chr22:33402657-33402960	HepG2	liver:	n/a	n/a
36	NR2F2	chr22:33402480-33403166	HepG2	liver:	n/a	n/a
37	FOXA2	chr22:33402084-33403404	HepG2	liver:	n/a	n/a
38	MYBL2	chr22:33402520-33403098	HepG2	liver:	n/a	n/a
39	FOS	chr22:33402603-33402892	MCF10A-Er-Src	breast:	n/a	n/a
40	FOXA2	chr22:33402566-33403236	HepG2	liver:	n/a	n/a
41	CEBPB	chr22:33402756-33402922	H1-hESC	embryonic stem cell:	n/a	chr22:33402765-33402778
42	NFIC	chr22:33402521-33403134	HepG2	liver:	n/a	n/a
43	NFIC	chr22:33402512-33403022	HepG2	liver:	n/a	n/a
44	HNF4A	chr22:33402649-33402971	HepG2	liver:	n/a	chr22:33402862-33402870
45	MYC	chr22:33402585-33403065	MCF10A-Er-Src	breast:	n/a	n/a
46	TCF12	chr22:33402627-33402978	HepG2	liver:	n/a	n/a
47	EP300	chr22:33402476-33403069	HepG2	liver:	n/a	chr22:33402726-33402739 chr22:33402859-33402869
48	FOS	chr22:33402526-33403294	MCF10A-Er-Src	breast:	n/a	n/a
49	CEBPB	chr22:33402625-33402936	HepG2	liver:	n/a	chr22:33402765-33402778
50	JUND	chr22:33402670-33402925	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32920308-32927723..22:33389304-33403028	K562	blood:
2	chr22:33401819..33404560-chr22:33409923..33412850,3	MCF-7	breast:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000185666	Chromatin interaction
ENSG00000228194	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1012082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs114509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133926	0.82[CEU][hapmap]
rs133931	0.81[CEU][hapmap]
rs133934	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs133937	0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs133938	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs133941	0.83[JPT][hapmap];0.80[AMR][1000 genomes]
rs133942	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs133943	0.95[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs133944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs133946	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133948	0.95[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs133949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133956	0.84[ASN][1000 genomes]
rs133957	0.84[ASN][1000 genomes]
rs133959	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133962	0.84[ASN][1000 genomes]
rs133963	0.82[ASN][1000 genomes]
rs133964	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs133965	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133966	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs470006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs470007	0.95[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs470008	0.89[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs470010	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs470011	0.84[ASN][1000 genomes]
rs5754371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5754377	0.92[CEU][hapmap];0.83[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs713832	0.84[ASN][1000 genomes]
rs71699	0.95[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs739143	0.95[GIH][hapmap];0.81[MEX][hapmap]
rs78506	1.00[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs86666	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33382400-33404200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:33399600-33403000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr22:33399600-33403200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr22:33399800-33403400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr22:33400400-33403200	Weak transcription	Brain Germinal Matrix	brain
6	chr22:33400600-33403400	Weak transcription	Fetal Brain Female	brain
7	chr22:33401400-33403600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:33401400-33403800	Enhancers	HepG2	liver
9	chr22:33401800-33403000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:33401800-33403400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr22:33402200-33403000	Enhancers	Liver	Liver
12	chr22:33402400-33403000	Weak transcription	Brain Angular Gyrus	brain
13	chr22:33402400-33403000	Enhancers	Gastric	stomach
14	chr22:33402400-33414200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr22:33402600-33403800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:33402600-33419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr22:33402800-33403400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr22:33402800-33403400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:33402800-33409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:33402800-33414600	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links