Variant report

Variant	rs12270631
Chromosome Location	chr11:23752720-23752721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10458857	0.83[EUR][1000 genomes]
rs10767107	0.86[EUR][1000 genomes]
rs10767108	0.88[EUR][1000 genomes]
rs10767111	0.80[EUR][1000 genomes]
rs10834184	0.87[EUR][1000 genomes]
rs11027447	0.82[EUR][1000 genomes]
rs11027460	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11602457	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4244504	0.86[EUR][1000 genomes]
rs4562829	0.80[EUR][1000 genomes]
rs4562830	0.82[EUR][1000 genomes]
rs4620716	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4922665	0.86[EUR][1000 genomes]
rs7111096	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7123134	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7933415	0.82[EUR][1000 genomes]
rs7936911	0.80[EUR][1000 genomes]
rs7937313	0.97[EUR][1000 genomes]
rs7943102	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7943495	0.84[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553757	chr11:23564329-23896729	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897062	chr11:23687928-24031627	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916840	chr11:23710275-24064119	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv897063	chr11:23723766-23940407	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3508599	chr11:23744425-23768884	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3508600	chr11:23744425-23768884	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3339316	chr11:23747776-23753374	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3494091	chr11:23748676-23756424	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3494089	chr11:23749126-23755824	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv18778	chr11:23749542-23753466	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3469075	chr11:23749721-23754996	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3469086	chr11:23749721-23754996	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3494090	chr11:23749725-23754885	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv3494088	chr11:23749784-23754923	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
15	esv3494092	chr11:23749840-23754800	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3473996	chr11:23750176-23755774	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv3474007	chr11:23750176-23755774	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island lncRNA	1 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	chr11:23742000-23754600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:23749200-23753200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:23751000-23753200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:23751000-23753600	Weak transcription	NH-A	brain
5	chr11:23752000-23753800	ZNF genes & repeats	Dnd41	blood
6	chr11:23752200-23754800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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