Variant report

Variant	rs4768673
Chromosome Location	chr12:46390108-46390109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46389987..46392891-chr12:46396271..46398091,2	K562	blood:
2	chr12:46383566..46385993-chr12:46390102..46391928,3	K562	blood:
3	chr12:46389619..46391753-chr12:46396680..46398448,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139218	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10161306	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1062905	0.92[ASN][1000 genomes]
rs10880867	0.85[ASN][1000 genomes]
rs10880873	0.91[ASN][1000 genomes]
rs10880874	0.91[ASN][1000 genomes]
rs10880883	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183234	0.89[ASN][1000 genomes]
rs11183251	0.92[ASN][1000 genomes]
rs11183273	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183275	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183298	0.85[EUR][1000 genomes]
rs11514434	0.85[EUR][1000 genomes]
rs11574964	0.98[ASN][1000 genomes]
rs12315290	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12318248	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1427750	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17096308	0.96[ASN][1000 genomes]
rs17096361	0.92[ASN][1000 genomes]
rs1896539	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2408462	0.82[ASN][1000 genomes]
rs4144983	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768099	0.98[ASN][1000 genomes]
rs4768100	0.91[ASN][1000 genomes]
rs4768667	0.83[ASN][1000 genomes]
rs4768670	0.92[ASN][1000 genomes]
rs4768672	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4768674	0.84[EUR][1000 genomes]
rs4768675	0.84[EUR][1000 genomes]
rs56146240	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61924070	0.92[ASN][1000 genomes]
rs61925812	0.81[ASN][1000 genomes]
rs67136007	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs735351	0.91[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	nsv832397	chr12:46265990-46453733	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv983463	chr12:46377328-46403983	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 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	chr12:46389000-46394800	Weak transcription	HepG2	liver

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