Variant report

Variant	rs59748838
Chromosome Location	chr12:11637921-11637922
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	chr12:11321289..11323850-chr12:11635988..11637922,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16933841	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933848	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1795544	1.00[AMR][1000 genomes]
rs1795545	1.00[AMR][1000 genomes]
rs1795546	1.00[AMR][1000 genomes]
rs59368327	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59982037	1.00[AMR][1000 genomes]
rs60348652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60749635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488411	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488422	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488423	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7306390	1.00[AMR][1000 genomes]
rs7313071	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277091	1.00[AMR][1000 genomes]
rs73278920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971836	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs888126	0.92[AFR][1000 genomes];1.00[AMR][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	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv557572	chr12:11575570-11693121	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11636600-11639200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:11636600-11639400	Weak transcription	Hela-S3	cervix
3	chr12:11636800-11639200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:11636800-11639400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:11637200-11639200	Weak transcription	HUVEC	blood vessel
6	chr12:11637400-11639000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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