Variant report

Variant	rs2700229
Chromosome Location	chr3:112853908-112853909
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112838001..112839541-chr3:112853891..112856823,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10511319	0.83[ASN][1000 genomes]
rs10934222	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11712319	0.90[ASN][1000 genomes]
rs11716722	0.89[ASN][1000 genomes]
rs11720141	0.90[ASN][1000 genomes]
rs11923603	0.93[CHB][hapmap]
rs12490566	0.86[ASN][1000 genomes]
rs12631163	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12631199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12634099	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2178398	0.88[ASN][1000 genomes]
rs2204788	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2204789	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3732812	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4528911	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4555493	0.88[ASN][1000 genomes]
rs62262801	0.90[ASN][1000 genomes]
rs62264166	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6770160	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs871595	0.88[ASN][1000 genomes]
rs9855348	0.86[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2700229	BOC	cis	cerebellar cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112847800-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112849400-112865200	Weak transcription	Fetal Stomach	stomach
3	chr3:112849800-112854800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:112851800-112854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:112852200-112854200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:112852200-112854800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:112852400-112854200	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:112852800-112854400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:112852800-112866800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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