Variant report

Variant	rs12533323
Chromosome Location	chr7:66874263-66874264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11971862	0.93[ASN][1000 genomes]
rs11976226	0.93[ASN][1000 genomes]
rs12530552	0.93[ASN][1000 genomes]
rs12530786	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12531602	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532084	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12532409	0.93[ASN][1000 genomes]
rs12532437	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12532798	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12532952	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12534196	0.93[ASN][1000 genomes]
rs12534273	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12535529	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12535715	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17144955	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17145211	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17786435	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2277021	1.00[JPT][hapmap]
rs34722608	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34737375	0.91[ASN][1000 genomes]
rs4717374	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4717380	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4717382	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718552	0.89[ASN][1000 genomes]
rs4718558	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57571548	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59658946	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61511823	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467568	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62467572	0.82[AMR][1000 genomes]
rs62467573	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62467574	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62467575	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62467578	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62467579	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62467612	0.93[ASN][1000 genomes]
rs73124053	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1031147	chr7:66811313-66922350	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1025049	chr7:66823977-66906930	Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv33523	chr7:66855435-66958898	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66872400-66878200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:66873600-66874400	Enhancers	Colon Smooth Muscle	Colon

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