Variant report

Variant	rs11112428
Chromosome Location	chr12:105644898-105644899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105629810..105631890-chr12:105644832..105647203,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1107755	0.93[EUR][1000 genomes]
rs1107757	0.93[EUR][1000 genomes]
rs11112424	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11112434	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1196744	0.84[ASN][1000 genomes]
rs1196753	0.83[EUR][1000 genomes]
rs1196754	0.83[EUR][1000 genomes]
rs1196770	0.84[EUR][1000 genomes]
rs1196772	0.84[EUR][1000 genomes]
rs1196777	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1196780	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196782	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1196786	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1196787	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196789	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196790	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1196791	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1196793	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1196795	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1196797	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1209637	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211626	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12369709	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12814458	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12816560	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1444610	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35679386	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67604711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71441895	0.84[EUR][1000 genomes]
rs73181823	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs873119	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935244	0.84[EUR][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	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
2	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112428	ALDH1L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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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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