Variant report

Variant	rs4393405
Chromosome Location	chr12:105367136-105367137
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105365761..105368091-chr12:105378210..105380629,2	MCF-7	breast:
2	chr12:105350976..105355078-chr12:105366279..105369986,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10160991	0.82[ASN][1000 genomes]
rs10161522	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11112276	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112277	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112279	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112283	0.94[ASN][1000 genomes]
rs11112307	0.94[ASN][1000 genomes]
rs11503466	0.94[ASN][1000 genomes]
rs12299385	0.96[ASN][1000 genomes]
rs12299936	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12300005	0.94[ASN][1000 genomes]
rs12300010	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12301432	0.94[ASN][1000 genomes]
rs12301850	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12306191	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12306443	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12306848	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12308952	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12310790	0.94[ASN][1000 genomes]
rs12313077	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12314995	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12315975	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12315983	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12316001	0.94[ASN][1000 genomes]
rs12319632	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12320024	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12320195	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12320880	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12321224	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12321226	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12321381	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35879768	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4267155	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4268581	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4451800	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7964906	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105360400-105368000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:105363600-105368000	Weak transcription	GM12878-XiMat	blood
3	chr12:105365200-105368600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:105365400-105368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:105365600-105368400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:105365800-105368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:105365800-105368400	Weak transcription	Osteobl	bone
8	chr12:105365800-105368600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:105365800-105368600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:105367000-105368000	Enhancers	NHEK	skin
11	chr12:105367000-105368200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:105367000-105368600	Enhancers	Placenta	Placenta

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