Variant report

Variant	rs6488410
Chromosome Location	chr12:11610923-11610924
allele	G/T
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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933848	0.89[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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59748838	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59982037	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60348652	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60749635	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488411	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488420	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488421	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488422	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6488423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7134032	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7305372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7306390	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7313071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277091	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278920	1.00[AMR][1000 genomes]
rs73278929	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7971836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs888126	0.87[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	nsv1040405	chr12:11370919-11613675	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11608800-11613200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:11609000-11613800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:11609200-11613000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:11610800-11612800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:11610800-11613000	Weak transcription	NHEK	skin

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