Variant report

Variant	rs1445313
Chromosome Location	chr12:33334261-33334262
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:33332688..33334476-chr12:33590436..33592933,2	MCF-7	breast:
2	chr12:33333640..33335661-chr12:33603103..33604823,2	MCF-7	breast:
3	chr12:33326381..33328792-chr12:33334118..33335651,2	MCF-7	breast:
4	chr12:33334030..33336914-chr12:33342942..33345656,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110975	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11052506	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11832405	0.84[AMR][1000 genomes]
rs12423297	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425992	0.93[ASN][1000 genomes]
rs12427282	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17555138	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4931058	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4931687	0.93[ASN][1000 genomes]
rs4931700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55801348	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55892073	0.84[AMR][1000 genomes]
rs61927363	0.93[ASN][1000 genomes]
rs61927403	0.83[EUR][1000 genomes]
rs61927448	0.84[AMR][1000 genomes]
rs61928811	0.86[ASN][1000 genomes]
rs61928812	0.86[ASN][1000 genomes]
rs61928813	0.86[ASN][1000 genomes]
rs61928820	0.93[ASN][1000 genomes]
rs61928821	0.93[ASN][1000 genomes]
rs9989005	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv558218	chr12:33302438-33334261	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1037459	chr12:33310703-33905662	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv541459	chr12:33310703-33905662	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1054927	chr12:33325003-33379954	Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv519988	chr12:33332749-33337457	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33331600-33334600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:33333200-33335400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:33334200-33334400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:33334200-33345000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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