Variant report

Variant	rs12193853
Chromosome Location	chr6:131983857-131983858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10457574	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11154642	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12192518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12193980	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12199875	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12204520	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12207523	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12207688	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12210900	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17060552	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286453	0.94[ASN][1000 genomes]
rs2286454	0.95[ASN][1000 genomes]
rs3213694	0.88[ASN][1000 genomes]
rs3778569	0.85[ASN][1000 genomes]
rs3778570	0.85[ASN][1000 genomes]
rs3778571	0.87[ASN][1000 genomes]
rs3800193	0.87[ASN][1000 genomes]
rs3800194	0.87[ASN][1000 genomes]
rs3800195	0.87[ASN][1000 genomes]
rs3850247	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4126646	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55931014	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56947999	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60048051	1.00[ASN][1000 genomes]
rs6569753	0.95[ASN][1000 genomes]
rs6901900	0.89[ASN][1000 genomes]
rs6922526	0.90[ASN][1000 genomes]
rs6922673	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6935272	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72999288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001214	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7762879	0.99[ASN][1000 genomes]
rs9321307	0.98[ASN][1000 genomes]
rs9321308	0.96[ASN][1000 genomes]
rs9483311	0.96[ASN][1000 genomes]
rs9483321	0.89[ASN][1000 genomes]
rs9493038	0.94[ASN][1000 genomes]
rs9493042	0.98[ASN][1000 genomes]
rs9493046	0.99[ASN][1000 genomes]
rs9493048	0.98[ASN][1000 genomes]
rs9493050	0.90[ASN][1000 genomes]
rs9493057	0.87[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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv830809	chr6:131953928-132126417	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830810	chr6:131960923-132138396	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131974400-131992400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:131975200-132008200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:131976000-131996600	Weak transcription	Fetal Intestine Large	intestine
4	chr6:131976200-131996800	Weak transcription	Fetal Intestine Small	intestine
5	chr6:131977000-131988000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:131977000-131997000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:131978600-131985400	Strong transcription	HepG2	liver
8	chr6:131981800-131992400	Weak transcription	K562	blood

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