Variant report

Variant	rs11181725
Chromosome Location	chr12:43249334-43249335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10459291	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11181704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11181723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11181727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11181735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11181736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11181738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11181740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11181741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11181742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11181743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11181785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181792	1.00[AFR][1000 genomes]
rs11181793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11181803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12227246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12580440	1.00[AFR][1000 genomes]
rs12581647	1.00[AFR][1000 genomes]
rs12582280	1.00[AFR][1000 genomes]
rs1520832	0.99[ASN][1000 genomes]
rs17091849	1.00[AFR][1000 genomes]
rs17091893	1.00[AFR][1000 genomes]
rs57735610	1.00[AMR][1000 genomes]
rs58957660	1.00[AMR][1000 genomes]
rs59894001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60308009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60668239	1.00[AMR][1000 genomes]
rs9634307	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv558749	chr12:43180190-43275097	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43241200-43252400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:43248400-43253000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:43248400-43254000	Weak transcription	Psoas Muscle	Psoas
4	chr12:43248600-43252800	Weak transcription	Fetal Lung	lung
5	chr12:43248800-43253200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:43248800-43254000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:43249000-43252600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:43249200-43249800	Enhancers	Stomach Mucosa	stomach
9	chr12:43249200-43254000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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