Variant report

Variant	rs11181727
Chromosome Location	chr12:43255926-43255927
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:43253347..43257570-chr12:43259632..43262617,4	MCF-7	breast:

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];0.83[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];0.83[ASN][1000 genomes]
rs11181723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11181725	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];0.99[ASN][1000 genomes]
rs11181736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11181738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11181740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11181741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11181742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11181743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	0.96[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	chr12:43254200-43258800	Weak transcription	HMEC	breast
2	chr12:43254200-43262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:43254400-43258800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:43254600-43257800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:43255400-43256400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:43255600-43256200	Enhancers	HSMM	muscle
7	chr12:43255600-43256400	Enhancers	HUVEC	blood vessel
8	chr12:43255800-43256200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:43255800-43256400	Enhancers	NH-A	brain

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