Variant report

Variant	rs7305372
Chromosome Location	chr12:11651834-11651835
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
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]
rs59748838	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59982037	1.00[AMR][1000 genomes]
rs60348652	0.96[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	0.98[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134032	0.98[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv976577	chr12:11651148-11653761	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11640200-11652000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:11650400-11652000	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:11651800-11652600	Enhancers	Brain Germinal Matrix	brain
4	chr12:11651800-11653200	Weak transcription	GM12878-XiMat	blood

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