Variant report

Variant	rs133946
Chromosome Location	chr22:33403278-33403279
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr22:33402539-33403326	MCF10A-Er-Src	breast:	n/a	chr22:33402811-33402818
2	FOXA1	chr22:33402476-33403290	HepG2	liver:	n/a	chr22:33402858-33402873
3	FOXA2	chr22:33402084-33403404	HepG2	liver:	n/a	n/a
4	FOS	chr22:33402526-33403294	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32012966-32043914..22:33403028-33406283	H1-hESC	embryonic stem cell:	embryo
2	22:32750950-32761732..22:33403028-33406283	H1-hESC	embryonic stem cell:	embryo
3	22:32740683-32750950..22:33403028-33406283	H1-hESC	embryonic stem cell:	embryo
4	22:32764253-32784733..22:33403028-33406283	K562	blood:
5	22:32477762-32487457..22:33403028-33406283	GM12878	blood:
6	chr22:33401819..33404560-chr22:33409923..33412850,3	MCF-7	breast:
7	22:33190123-33206921..22:33403028-33406283	K562	blood:
8	22:32920308-32927723..22:33403028-33406283	GM12878	blood:
9	22:32915608-32918105..22:33403028-33406283	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000185666	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000228194	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000100170	Chromatin interaction
ENSG00000128276	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]
rs133945	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:14 , 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	chr22:33399800-33403400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr22:33400600-33403400	Weak transcription	Fetal Brain Female	brain
4	chr22:33401400-33403600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:33401400-33403800	Enhancers	HepG2	liver
6	chr22:33401800-33403400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:33402400-33414200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:33402600-33403800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:33402600-33419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:33402800-33403400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:33402800-33403400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:33402800-33409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:33402800-33414600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:33403000-33420000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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