Variant report

Variant	rs12114345
Chromosome Location	chr8:68413146-68413147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10156292	1.00[MEX][hapmap]
rs11984486	0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11984610	0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11984622	1.00[MEX][hapmap]
rs11985367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985481	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11985562	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989150	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11989425	1.00[MEX][hapmap]
rs11990115	1.00[MEX][hapmap]
rs11991332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994733	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11994812	0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11995823	1.00[MEX][hapmap]
rs11995861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11997783	0.83[AMR][1000 genomes]
rs11998063	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12114222	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12115165	1.00[AFR][1000 genomes]
rs12115177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1484605	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1503362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933306	1.00[MEX][hapmap]
rs6997223	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs7013505	1.00[MEX][hapmap]

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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024135	chr8:68235792-68629789	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv539642	chr8:68235792-68629789	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv2752264	chr8:68244546-68647201	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr8:68402600-68423000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:68404400-68416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:68412400-68416000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:68413000-68416200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:68413000-68416800	Weak transcription	Rectal Mucosa Donor 29	rectum

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