Variant report

Variant	rs73322794
Chromosome Location	chr12:68338053-68338054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:68041839..68044981-chr12:68337420..68341334,5	MCF-7	breast:
2	chr12:68329675..68332537-chr12:68336237..68339598,3	MCF-7	breast:
3	chr12:68043269..68046070-chr12:68337397..68339076,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127334	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10492202	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10878704	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176947	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176950	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176951	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176955	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176956	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11176960	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176962	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11176964	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12582501	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104563	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2870807	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913265	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4913372	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913373	0.98[ASN][1000 genomes]
rs4913375	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4913377	1.00[ASN][1000 genomes]
rs58642438	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60650476	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311747	1.00[ASN][1000 genomes]
rs7311772	1.00[ASN][1000 genomes]
rs73324809	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7954639	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7972825	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888334	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv899219	chr12:68293419-68353649	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68334600-68339000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr12:68335000-68338400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr12:68336800-68340000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:68336800-68341000	Weak transcription	Psoas Muscle	Psoas
5	chr12:68337000-68338400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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