Variant report

Variant	rs11125731
Chromosome Location	chr2:57988083-57988084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11895728	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897283	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11898852	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72947182	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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874193	chr2:57758608-58066673	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006688	chr2:57822953-58030203	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874197	chr2:57978858-58068741	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv834148	chr2:57979661-58119213	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv874198	chr2:57987593-58068741	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57985400-57988400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:57987400-58009800	Weak transcription	Pancreas	Pancrea
3	chr2:57987600-57988200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:57987600-57988200	Enhancers	A549	lung
5	chr2:57987600-57989200	Weak transcription	K562	blood
6	chr2:57987800-57988200	Enhancers	GM12878-XiMat	blood
7	chr2:57987800-57988400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:57987800-57988400	Enhancers	Brain Germinal Matrix	brain
9	chr2:57987800-57988400	Enhancers	Fetal Brain Female	brain
10	chr2:57987800-57988800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:57987800-57989000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:57987800-57989200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:57987800-57989400	Enhancers	Brain Hippocampus Middle	brain
14	chr2:57987800-57994600	Weak transcription	Thymus	Thymus
15	chr2:57988000-57988200	Enhancers	Brain Angular Gyrus	brain
16	chr2:57988000-57988400	Enhancers	Brain Cingulate Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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