Variant report

Variant	rs12114551
Chromosome Location	chr8:68406745-68406746
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11984486	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11984610	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11989150	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11991332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994733	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11994812	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
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	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12114222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12114345	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	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1503362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6997223	0.83[AMR][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	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:4 , 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	chr8:68402800-68412400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:68403000-68407000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:68404400-68416800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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