Variant report

Variant	rs12302697
Chromosome Location	chr12:117898673-117898674
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	chr12:117887249..117891968-chr12:117894692..117899084,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255686	Chromatin interaction
ENSG00000089250	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10507280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774926	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10850827	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs11068499	0.93[CHB][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11068500	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068501	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11068503	0.89[JPT][hapmap]
rs11068505	0.80[ASN][1000 genomes]
rs11068506	0.81[ASN][1000 genomes]
rs11613545	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs12311157	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12312120	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12316771	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12320449	0.90[CEU][hapmap];0.93[CHB][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12813784	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12813801	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17618096	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34731287	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41279104	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61071715	0.94[ASN][1000 genomes]
rs73208197	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs900623	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv899543	chr12:117882412-117925208	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117894200-117904600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:117896000-117923800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:117897000-117908800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:117898000-117921400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:117898200-117898800	Enhancers	HUVEC	blood vessel

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