Variant report

Variant	rs72648581
Chromosome Location	chr4:78309938-78309939
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78307688..78309988-chr4:78313564..78315382,2	K562	blood:
2	chr4:78298658..78300930-chr4:78308885..78310955,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10016230	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11930470	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11936421	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12500776	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12501577	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12502346	0.92[EUR][1000 genomes]
rs12503990	0.92[EUR][1000 genomes]
rs12505837	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12506515	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12506585	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12511631	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17002580	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1806738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806786	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1962168	0.83[EUR][1000 genomes]
rs1962351	0.83[EUR][1000 genomes]
rs28413838	0.92[EUR][1000 genomes]
rs28437320	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28454139	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28522639	0.92[EUR][1000 genomes]
rs2866287	0.92[EUR][1000 genomes]
rs2866288	0.92[EUR][1000 genomes]
rs2866289	0.85[EUR][1000 genomes]
rs2866290	0.83[EUR][1000 genomes]
rs28711853	0.92[EUR][1000 genomes]
rs4282207	0.92[EUR][1000 genomes]
rs4579145	0.92[EUR][1000 genomes]
rs55905288	0.83[EUR][1000 genomes]
rs57104380	0.83[EUR][1000 genomes]
rs59732128	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6650924	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67084501	0.92[EUR][1000 genomes]
rs67295944	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67714872	0.92[EUR][1000 genomes]
rs67955395	0.92[EUR][1000 genomes]
rs72648554	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648556	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648557	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648559	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72648560	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72648563	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72648565	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648566	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648573	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72648575	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72648578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648580	0.97[ASN][1000 genomes]
rs72648583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72650413	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72864744	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7674431	0.83[EUR][1000 genomes]
rs7695467	0.83[EUR][1000 genomes]
rs9990691	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006017	chr4:78139780-78312974	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1010450	chr4:78182037-78317840	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1004824	chr4:78188691-78312974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1845782	chr4:78237955-78321598	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv594698	chr4:78291876-78334483	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv967998	chr4:78301212-78311035	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78308200-78311200	Weak transcription	Fetal Intestine Large	intestine
2	chr4:78308800-78310200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr4:78308800-78310400	Enhancers	Fetal Muscle Leg	muscle
4	chr4:78309200-78311800	Weak transcription	Aorta	Aorta
5	chr4:78309600-78310000	Weak transcription	Psoas Muscle	Psoas

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