Variant report

Variant	rs7972785
Chromosome Location	chr12:48877056-48877057
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	chr12:48875260..48877080-chr12:48883909..48886028,2	K562	blood:

Variant related genes	Relation type
ENSG00000177627	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10875827	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10875829	0.89[EUR][1000 genomes]
rs10875833	0.82[EUR][1000 genomes]
rs11168577	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168586	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168618	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168619	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168637	0.82[EUR][1000 genomes]
rs11458	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12371700	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815544	0.83[EUR][1000 genomes]
rs2114322	0.81[EUR][1000 genomes]
rs2731091	0.83[ASN][1000 genomes]
rs2731094	0.83[ASN][1000 genomes]
rs2731095	0.83[ASN][1000 genomes]
rs2731097	0.82[ASN][1000 genomes]
rs2731107	0.83[ASN][1000 genomes]
rs2956467	0.81[ASN][1000 genomes]
rs35338015	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4359253	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57444623	0.96[ASN][1000 genomes]
rs6580671	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7302209	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7310960	0.81[ASN][1000 genomes]
rs7955785	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7974213	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7976324	0.81[EUR][1000 genomes]
rs7980421	0.83[EUR][1000 genomes]
rs9268	0.80[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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv975415	chr12:48873981-48881500	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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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