Variant report

Variant	rs11890431
Chromosome Location	chr2:182416173-182416174
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	chr2:182410570..182412601-chr2:182415829..182418242,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1026403	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10490692	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1143674	0.83[EUR][1000 genomes]
rs11886182	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12478032	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12690516	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12997453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13003064	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13034078	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1375491	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1551031	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17226490	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2887191	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3770108	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6707704	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6714061	0.81[EUR][1000 genomes]
rs6721763	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6748657	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7562325	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7602504	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv869674	chr2:182409485-182468632	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 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	chr2:182401400-182417600	Weak transcription	NHDF-Ad	bronchial
2	chr2:182406800-182418200	Weak transcription	Fetal Thymus	thymus
3	chr2:182410800-182419200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:182411200-182416800	Weak transcription	HMEC	breast
5	chr2:182411200-182417000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:182411200-182417000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:182415800-182416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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