Variant report

Variant	rs7927365
Chromosome Location	chr11:103872513-103872514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11600096	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11824542	1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483501	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs17331699	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs17332348	1.00[CHB][hapmap]
rs2515081	1.00[CHB][hapmap]
rs260847	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs260850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs260854	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs260855	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs260863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34987759	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35016460	1.00[ASN][1000 genomes]
rs35965296	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55966490	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589796	1.00[CHB][hapmap]
rs67576530	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102675	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113370	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7121786	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs7128670	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975261	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2750977	chr11:103082558-103924790	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv948974	chr11:103082558-103932207	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2760322	chr11:103760085-104374141	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1051448	chr11:103864766-104274112	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv541157	chr11:103864766-104274112	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7927365	CASP4	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103769600-103877600	Weak transcription	Pancreas	Pancrea
2	chr11:103847000-103874400	Weak transcription	Left Ventricle	heart
3	chr11:103859600-103875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:103864600-103880000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:103870800-103873000	Enhancers	NHDF-Ad	bronchial
6	chr11:103870800-103874800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:103871000-103873200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:103871000-103874000	Weak transcription	Ovary	ovary
9	chr11:103871000-103874200	Weak transcription	Aorta	Aorta
10	chr11:103871000-103874800	Enhancers	Osteobl	bone
11	chr11:103871800-103874800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:103872200-103873000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:103872200-103875000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:103872400-103872600	Enhancers	Fetal Muscle Leg	muscle
15	chr11:103872400-103872600	Enhancers	Fetal Stomach	stomach
16	chr11:103872400-103873400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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