Variant report

Variant	rs5754043
Chromosome Location	chr22:32769098-32769099
allele	A/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	FAM48A	chr22:32769015-32769198	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31829733-31836635..22:32764253-32784733	K562	blood:
2	22:31936958-31958600..22:32764253-32784733	K562	blood:
3	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
4	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32764253-32784733	K562	blood:

Variant related genes	Relation type
RFPL3S	TF binding region
ENSG00000230736	TF binding region
IGLVIVOR22-2	TF binding region
ENSG00000239674	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12160986	0.80[CHB][hapmap]
rs2072815	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs2076034	0.95[CHB][hapmap]
rs2076035	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2076036	0.91[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2142720	0.82[CHB][hapmap]
rs2413108	0.91[CHB][hapmap]
rs2413113	0.85[JPT][hapmap]
rs2899185	0.80[CHB][hapmap]
rs4343557	0.88[CEU][hapmap];0.91[CHB][hapmap]
rs5749407	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs5749412	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs5753999	0.81[ASN][1000 genomes]
rs5754003	0.80[CHB][hapmap]
rs5754008	0.80[CHB][hapmap]
rs5754010	0.80[CHB][hapmap]
rs5754020	0.95[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs5754026	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754027	0.90[CHB][hapmap]
rs5754028	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5754030	0.92[CHB][hapmap]
rs5754036	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs5754037	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs5754039	0.80[CHB][hapmap]
rs5754040	0.92[CHB][hapmap];0.80[ASN][1000 genomes]
rs5754041	0.80[ASN][1000 genomes]
rs5754042	0.80[CHB][hapmap]
rs5754044	0.92[CHB][hapmap];0.80[ASN][1000 genomes]
rs5754049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5754051	0.96[ASN][1000 genomes]
rs58996666	0.94[ASN][1000 genomes]
rs5998440	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5998446	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5998448	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5998451	0.91[CHB][hapmap]
rs5998456	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs5998457	0.83[CHB][hapmap]
rs5998463	0.91[CHB][hapmap]
rs60953467	0.81[ASN][1000 genomes]
rs7285957	0.90[ASN][1000 genomes]
rs7287452	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7291000	0.94[ASN][1000 genomes]
rs738267	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	esv1817721	chr22:32758417-32770340	Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv519170	chr22:32765949-32771017	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32755800-32781600	Weak transcription	Ovary	ovary
2	chr22:32762800-32788200	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links