Variant report

Variant	rs12292688
Chromosome Location	chr11:108487317-108487318
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11823348	0.90[ASN][1000 genomes]
rs12274913	0.93[ASN][1000 genomes]
rs7122411	0.93[ASN][1000 genomes]
rs7122442	0.93[ASN][1000 genomes]
rs7128600	0.93[ASN][1000 genomes]
rs7358394	0.93[ASN][1000 genomes]
rs7929602	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929697	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898387	chr11:108440814-108535792	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108472800-108488000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:108474400-108494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:108480800-108495000	Weak transcription	K562	blood
4	chr11:108481600-108487600	Weak transcription	HSMMtube	muscle
5	chr11:108483000-108491200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:108486600-108489000	Enhancers	Placenta	Placenta
7	chr11:108486800-108488600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:108486800-108489400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:108486800-108489600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:108486800-108489600	Enhancers	NHEK	skin
11	chr11:108487000-108487400	Enhancers	A549	lung
12	chr11:108487000-108488400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:108487000-108489200	Enhancers	HMEC	breast
14	chr11:108487000-108489600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:108487200-108487400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr11:108487200-108487600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:108487200-108487800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr11:108487200-108488400	Enhancers	HUVEC	blood vessel
19	chr11:108487200-108488600	Enhancers	Hela-S3	cervix
20	chr11:108487200-108488600	Enhancers	NH-A	brain

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