Variant report

Variant	rs73300718
Chromosome Location	chr12:48905868-48905869
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	chr12:48904094..48906808-chr12:49016863..49019582,2	MCF-7	breast:
2	chr12:48899375..48901667-chr12:48903999..48906182,2	K562	blood:

Variant related genes	Relation type
ENSG00000197376	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11168584	0.82[EUR][1000 genomes]
rs11609658	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11612896	0.82[EUR][1000 genomes]
rs11613869	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11830262	0.82[EUR][1000 genomes]
rs11833650	0.82[EUR][1000 genomes]
rs11834979	0.82[EUR][1000 genomes]
rs11836257	0.81[EUR][1000 genomes]
rs11837374	0.82[EUR][1000 genomes]
rs12318285	0.81[ASN][1000 genomes]
rs12424097	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12424940	0.82[EUR][1000 genomes]
rs12425518	0.89[EUR][1000 genomes]
rs17123109	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17123138	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34400124	0.81[EUR][1000 genomes]
rs4760632	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4760727	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56796388	0.82[EUR][1000 genomes]
rs60874066	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61096762	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72644858	0.82[EUR][1000 genomes]
rs72644859	0.82[EUR][1000 genomes]
rs72644862	0.82[EUR][1000 genomes]
rs72644863	0.82[EUR][1000 genomes]
rs72644864	0.81[EUR][1000 genomes]
rs73300707	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73302549	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74087209	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7967630	0.83[EUR][1000 genomes]
rs9788163	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	esv1803653	chr12:48905575-48923774	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island 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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