Variant report

Variant	rs73387048
Chromosome Location	chr12:106297193-106297194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106290301..106292284-chr12:106297027..106299498,2	K562	blood:
2	chr12:106293395..106295805-chr12:106296043..106298389,2	MCF-7	breast:
3	chr12:106289622..106291311-chr12:106295279..106297822,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10507203	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10861526	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10861527	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10861529	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10861530	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10861531	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11112776	0.88[EUR][1000 genomes]
rs11112789	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11112791	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615749	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12301955	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307410	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12367295	0.91[EUR][1000 genomes]
rs12368539	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12423582	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426023	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345544	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345545	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421441	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1421461	0.83[ASN][1000 genomes]
rs1421464	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421467	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541629	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17278606	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1862027	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1862028	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2374559	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2374561	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28635481	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4620812	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7133626	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297930	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300496	0.89[EUR][1000 genomes]
rs7300906	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300926	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305359	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960296	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7960880	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7964927	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968454	0.89[EUR][1000 genomes]
rs7968564	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7980152	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:106292800-106305600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:106293600-106300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:106296800-106297200	Enhancers	Pancreas	Pancrea
4	chr12:106296800-106299800	Weak transcription	HSMMtube	muscle

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