Variant report

Variant	rs12486277
Chromosome Location	chr3:112858150-112858151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70232529..70235203-chr3:112855285..112858190,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10934217	0.80[AMR][1000 genomes]
rs11923603	0.82[CEU][hapmap]
rs12486305	0.93[YRI][hapmap]
rs1797621	0.89[AMR][1000 genomes]
rs1797622	0.90[AMR][1000 genomes]
rs1881943	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1881947	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1920080	0.97[ASN][1000 genomes]
rs2045687	0.89[AMR][1000 genomes]
rs2045688	0.88[AMR][1000 genomes]
rs2045691	0.89[AMR][1000 genomes]
rs2613920	0.80[AMR][1000 genomes]
rs2613921	0.84[AMR][1000 genomes]
rs2613922	0.84[AMR][1000 genomes]
rs2613963	0.97[ASN][1000 genomes]
rs2700202	0.84[AMR][1000 genomes]
rs2700206	0.89[AMR][1000 genomes]
rs2926811	0.89[AMR][1000 genomes]
rs2951458	0.89[AMR][1000 genomes]
rs2951459	0.89[AMR][1000 genomes]
rs2951460	0.89[AMR][1000 genomes]
rs2951462	0.90[AMR][1000 genomes]
rs2951463	0.89[AMR][1000 genomes]
rs3852010	0.89[AMR][1000 genomes]
rs4387939	0.89[AMR][1000 genomes]
rs62262831	0.80[AMR][1000 genomes]
rs6438130	0.86[AMR][1000 genomes]
rs6783663	0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6807101	0.84[AMR][1000 genomes]
rs7632483	0.83[AMR][1000 genomes]
rs7650532	0.84[AMR][1000 genomes]
rs878460	0.84[AMR][1000 genomes]
rs9810734	0.92[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs9829983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9834189	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[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	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 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	chr3:112852800-112866800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:112855000-112859800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:112855000-112866800	Weak transcription	Pancreas	Pancrea
6	chr3:112855200-112858200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:112855200-112859800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:112857600-112858800	Enhancers	Rectal Smooth Muscle	rectum
9	chr3:112857800-112858200	Enhancers	Stomach Mucosa	stomach
10	chr3:112857800-112858800	Enhancers	Adipose Nuclei	Adipose
11	chr3:112858000-112858200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr3:112858000-112858800	Enhancers	Stomach Smooth Muscle	stomach
13	chr3:112858000-112859000	Enhancers	Colon Smooth Muscle	Colon

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