Variant report

Variant	rs60263267
Chromosome Location	chr12:39880635-39880636
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	chr12:39835157..39838438-chr12:39876568..39883388,6	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10876989	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10877009	0.80[EUR][1000 genomes]
rs10877100	0.83[ASN][1000 genomes]
rs11172144	0.88[AFR][1000 genomes]
rs11172162	0.88[AFR][1000 genomes]
rs11172183	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172235	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11172264	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11172282	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11172319	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11172320	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172357	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11172366	0.89[AFR][1000 genomes]
rs11172386	0.87[ASN][1000 genomes]
rs11172392	0.87[ASN][1000 genomes]
rs11172492	0.83[ASN][1000 genomes]
rs11172493	0.83[ASN][1000 genomes]
rs11172541	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172592	0.80[ASN][1000 genomes]
rs11172625	0.81[ASN][1000 genomes]
rs11172638	0.81[ASN][1000 genomes]
rs11172650	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12228013	0.80[AFR][1000 genomes]
rs4284427	0.81[ASN][1000 genomes]
rs4285917	0.88[AFR][1000 genomes]
rs4320988	0.87[ASN][1000 genomes]
rs4378431	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4390378	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4466883	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4500523	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4564382	0.86[EUR][1000 genomes]
rs59695906	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60900225	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6581187	0.80[ASN][1000 genomes]
rs6581188	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7133599	0.82[AFR][1000 genomes]
rs7294474	0.86[AFR][1000 genomes]
rs7302302	0.91[AFR][1000 genomes]
rs73094447	0.91[AFR][1000 genomes]
rs73094449	0.91[AFR][1000 genomes]
rs73094488	0.88[AFR][1000 genomes]
rs74086536	0.82[AFR][1000 genomes]
rs7485730	0.81[ASN][1000 genomes]
rs7966540	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7968837	0.82[ASN][1000 genomes]
rs7974928	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7979444	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	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1044049	chr12:39845078-39922808	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1051709	chr12:39846990-39899051	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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