Variant report

Variant	rs1454931
Chromosome Location	chr12:32923923-32923924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11615932	0.89[YRI][hapmap]
rs16920143	1.00[AMR][1000 genomes]
rs4511366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56686514	0.83[AFR][1000 genomes]
rs58332051	0.83[AFR][1000 genomes]
rs59521087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61055118	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61669309	0.87[AFR][1000 genomes]
rs73299928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301713	0.83[AFR][1000 genomes]
rs73301753	0.83[AFR][1000 genomes]
rs73301775	0.83[AFR][1000 genomes]
rs73301781	0.83[AFR][1000 genomes]
rs73301783	0.83[AFR][1000 genomes]
rs73301801	0.83[AFR][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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1042661	chr12:32871860-32928833	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32920400-32926000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:32921600-32924800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:32921800-32926000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:32922600-32927200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:32923200-32924000	Enhancers	Fetal Intestine Small	intestine
6	chr12:32923400-32926000	Weak transcription	Small Intestine	intestine
7	chr12:32923600-32925400	Weak transcription	Rectal Mucosa Donor 29	rectum

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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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