Variant report

Variant	rs28993969
Chromosome Location	chr2:113762224-113762225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113751007..113752612-chr2:113760021..113762623,2	K562	blood:
2	chr2:113751007..113754364-chr2:113757829..113763549,5	K562	blood:

Variant related genes	Relation type
ENSG00000232090	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10173618	0.96[EUR][1000 genomes]
rs10196340	0.96[EUR][1000 genomes]
rs10496447	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11677903	0.91[ASN][1000 genomes]
rs11680584	0.91[ASN][1000 genomes]
rs11680975	0.91[ASN][1000 genomes]
rs13392494	0.96[EUR][1000 genomes]
rs13407838	0.96[EUR][1000 genomes]
rs13410389	0.96[EUR][1000 genomes]
rs13415097	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1446516	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17042691	0.96[EUR][1000 genomes]
rs17607787	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659543	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17660913	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28938790	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28947168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28947170	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28947203	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28954071	0.96[EUR][1000 genomes]
rs28954077	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34345011	0.83[ASN][1000 genomes]
rs34862832	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35229022	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768769	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923566	0.91[ASN][1000 genomes]
rs4592853	0.91[ASN][1000 genomes]
rs56198490	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6542107	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6714534	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7597623	0.91[ASN][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	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv874878	chr2:113742734-113776076	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv963895	chr2:113760993-113772508	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113759200-113765000	Weak transcription	Primary T cells from cord blood	blood

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