Variant report

Variant	rs12320197
Chromosome Location	chr12:46738883-46738884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46737649..46740017-chr12:46750848..46753448,3	MCF-7	breast:
2	chr12:46737684..46739517-chr12:46751004..46752577,2	K562	blood:
3	chr12:46735335..46740420-chr12:46762976..46767704,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10785620	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10785624	0.86[EUR][1000 genomes]
rs10880956	0.92[AFR][1000 genomes]
rs10880962	0.92[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12296120	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12303214	0.81[CEU][hapmap]
rs12307969	0.94[EUR][1000 genomes]
rs12816358	0.81[CEU][hapmap]
rs1492892	0.89[CHD][hapmap]
rs1492893	0.82[CHD][hapmap]
rs1873793	1.00[CEU][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2169030	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs2172398	0.89[CHD][hapmap]
rs2242355	0.83[CHD][hapmap]
rs2279559	0.92[CEU][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs2408497	0.81[CEU][hapmap]
rs2897968	0.85[CEU][hapmap]
rs35377637	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3782904	0.85[CEU][hapmap];0.80[LWK][hapmap];0.82[MEX][hapmap]
rs3847985	0.84[CHD][hapmap]
rs4768692	0.84[CHD][hapmap]
rs4768698	0.85[CEU][hapmap];0.83[JPT][hapmap];0.86[MEX][hapmap]
rs7316773	0.89[CHD][hapmap]
rs7960147	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs7961994	0.85[CEU][hapmap]
rs7964679	0.89[AFR][1000 genomes]
rs7968173	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs7968283	0.85[CEU][hapmap];0.82[MEX][hapmap]
rs7972573	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7974529	0.85[CEU][hapmap];0.83[JPT][hapmap];0.80[LWK][hapmap];0.82[MEX][hapmap]
rs7975820	0.81[LWK][hapmap]
rs7979418	0.81[CEU][hapmap]
rs956910	0.85[CEU][hapmap];0.83[JPT][hapmap];0.80[LWK][hapmap];0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3423694	chr12:46733685-46745567	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 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	chr12:46736800-46743000	Weak transcription	Right Ventricle	heart
2	chr12:46737000-46745800	Weak transcription	Adipose Nuclei	Adipose
3	chr12:46737200-46754800	Weak transcription	Psoas Muscle	Psoas
4	chr12:46737600-46753600	Weak transcription	Pancreas	Pancrea
5	chr12:46737600-46761200	Weak transcription	Gastric	stomach

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