Variant report

Variant	rs739143
Chromosome Location	chr22:33421826-33421827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32740683-32750950..22:33418971-33427592	Hela-S3	cervix:
2	22:32920308-32927723..22:33418971-33427592	Hela-S3	cervix:
3	22:32764253-32784733..22:33418971-33427592	Hela-S3	cervix:
4	22:32264718-32278135..22:33418971-33427592	Hela-S3	cervix:
5	22:32544939-32549151..22:33418971-33427592	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000205856	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000230736	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1012082	0.81[EUR][1000 genomes]
rs114509	0.81[EUR][1000 genomes]
rs133926	0.88[CEU][hapmap];0.84[CHB][hapmap]
rs133931	0.88[CEU][hapmap];0.84[CHB][hapmap]
rs133934	0.92[CEU][hapmap];0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs133936	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs133937	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs133938	0.92[CEU][hapmap];0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs133941	0.86[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs133945	0.95[GIH][hapmap];0.81[MEX][hapmap]
rs133946	0.95[GIH][hapmap];0.81[MEX][hapmap]
rs133949	0.95[GIH][hapmap];0.81[MEX][hapmap];0.81[EUR][1000 genomes]
rs133959	0.82[EUR][1000 genomes]
rs133964	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133965	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs133966	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs133967	0.92[CHB][hapmap];0.90[CHD][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs133970	0.92[CHB][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs133972	0.82[ASN][1000 genomes]
rs133974	0.86[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs1894536	0.93[YRI][hapmap]
rs241708	0.83[CHB][hapmap]
rs241711	1.00[CHB][hapmap]
rs241712	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs241714	0.84[CHB][hapmap]
rs241715	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs241721	0.85[CEU][hapmap];0.84[CHB][hapmap]
rs470004	0.81[CEU][hapmap]
rs470006	0.95[GIH][hapmap]
rs470010	0.82[EUR][1000 genomes]
rs470013	0.86[CHB][hapmap];0.87[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs5754377	0.96[CEU][hapmap];0.92[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5754384	0.89[ASN][1000 genomes]
rs78506	0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs739143	XBP1	cis	cerebellum	SCAN
rs739143	C22orf28	cis	cerebellum	SCAN
rs739143	OSBP2	cis	cerebellum	SCAN
rs739143	PES1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33414800-33422000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr22:33414800-33430600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:33415000-33434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:33417200-33424200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:33417400-33430800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:33418400-33430600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr22:33419200-33424000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:33419400-33423000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:33420000-33423000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:33420200-33424000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:33420200-33426200	Weak transcription	Right Atrium	heart
12	chr22:33421800-33422600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:33421800-33422600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:33421800-33422800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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