Variant report

Variant	rs16990340
Chromosome Location	chr22:32769056-32769057
allele	G/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
IGLVIVOR22-2	TF binding region
RFPL3S	TF binding region
ENSG00000230736	TF binding region
ENSG00000240647	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000232707	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs13110	1.00[AMR][1000 genomes]
rs16990363	0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35003092	1.00[AMR][1000 genomes]
rs41520848	1.00[EUR][1000 genomes]
rs55696448	1.00[EUR][1000 genomes]
rs55726161	1.00[AMR][1000 genomes]
rs56088001	1.00[AMR][1000 genomes]
rs56164445	1.00[AMR][1000 genomes]
rs56241612	1.00[AMR][1000 genomes]
rs56257111	1.00[AMR][1000 genomes]
rs56273567	1.00[AMR][1000 genomes]
rs56300131	1.00[AMR][1000 genomes]
rs56304230	1.00[AMR][1000 genomes]
rs56393759	1.00[AMR][1000 genomes]
rs56835150	1.00[AMR][1000 genomes]
rs56870764	1.00[AMR][1000 genomes]
rs56946080	1.00[AMR][1000 genomes]
rs57040236	1.00[AMR][1000 genomes]
rs57377298	1.00[EUR][1000 genomes]
rs57467712	1.00[AMR][1000 genomes]
rs57526188	1.00[AMR][1000 genomes]
rs57670657	1.00[AMR][1000 genomes]
rs58329990	1.00[AMR][1000 genomes]
rs58747874	1.00[AMR][1000 genomes]
rs58917959	1.00[AMR][1000 genomes]
rs59540071	1.00[AMR][1000 genomes]
rs59540535	1.00[AMR][1000 genomes]
rs59570290	1.00[AMR][1000 genomes]
rs59814970	1.00[AMR][1000 genomes]
rs5998365	1.00[EUR][1000 genomes]
rs5998441	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60284718	1.00[AMR][1000 genomes]
rs60614590	1.00[AMR][1000 genomes]
rs61036457	1.00[AMR][1000 genomes]
rs61060987	1.00[AMR][1000 genomes]
rs61102923	1.00[EUR][1000 genomes]
rs61702109	1.00[AMR][1000 genomes]
rs7284713	1.00[AMR][1000 genomes]
rs7284743	1.00[AMR][1000 genomes]
rs7285750	1.00[AMR][1000 genomes]
rs7288743	1.00[AMR][1000 genomes]
rs7289526	1.00[AMR][1000 genomes]
rs7289656	1.00[AMR][1000 genomes]
rs7290295	1.00[AMR][1000 genomes]
rs7293064	1.00[AMR][1000 genomes]
rs73395092	1.00[EUR][1000 genomes]
rs73881640	1.00[EUR][1000 genomes]
rs73881645	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881659	1.00[AMR][1000 genomes]
rs73881660	1.00[AMR][1000 genomes]
rs73881661	1.00[AMR][1000 genomes]
rs73881662	1.00[AMR][1000 genomes]
rs73881663	1.00[AMR][1000 genomes]
rs73881664	1.00[AMR][1000 genomes]
rs73881665	1.00[AMR][1000 genomes]
rs73881666	1.00[AMR][1000 genomes]
rs73881668	1.00[AMR][1000 genomes]
rs73881669	1.00[AMR][1000 genomes]
rs73881670	1.00[AMR][1000 genomes]
rs73881671	1.00[AMR][1000 genomes]
rs73881673	1.00[AMR][1000 genomes]
rs73881674	1.00[AMR][1000 genomes]
rs73881675	1.00[AMR][1000 genomes]
rs73881676	1.00[AMR][1000 genomes]
rs73881677	1.00[AMR][1000 genomes]
rs73881678	1.00[AMR][1000 genomes]
rs73881679	1.00[AMR][1000 genomes]
rs73881680	1.00[AMR][1000 genomes]
rs73881682	1.00[AMR][1000 genomes]
rs73881683	1.00[AMR][1000 genomes]
rs73881684	1.00[AMR][1000 genomes]
rs73881685	1.00[AMR][1000 genomes]
rs73881686	1.00[AMR][1000 genomes]
rs73881688	1.00[AMR][1000 genomes]
rs73881689	1.00[AMR][1000 genomes]
rs73881690	1.00[AMR][1000 genomes]
rs73881691	1.00[AMR][1000 genomes]
rs73881694	1.00[AMR][1000 genomes]
rs73881695	1.00[AMR][1000 genomes]
rs73881696	1.00[AMR][1000 genomes]
rs73881697	1.00[AMR][1000 genomes]
rs73881701	1.00[AMR][1000 genomes]
rs73881702	1.00[AMR][1000 genomes]
rs8139487	1.00[AMR][1000 genomes]
rs8139992	1.00[AMR][1000 genomes]
rs8140227	1.00[EUR][1000 genomes]
rs8140647	1.00[EUR][1000 genomes]
rs8141096	1.00[AMR][1000 genomes]
rs8141141	1.00[AMR][1000 genomes]

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

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