Variant report

Variant	rs55720290
Chromosome Location	chr11:57747135-57747136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12099045	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099136	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638091	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55920197	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56041837	0.92[EUR][1000 genomes]
rs56205429	1.00[EUR][1000 genomes];0.92[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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv517822	chr11:57728993-57751001	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv328	chr11:57744748-57789940	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island 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	chr11:57742600-57751000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:57742600-57751000	Weak transcription	Brain Germinal Matrix	brain
3	chr11:57745000-57747400	Enhancers	Pancreas	Pancrea
4	chr11:57745000-57748200	Enhancers	HSMMtube	muscle
5	chr11:57745400-57747400	Enhancers	Gastric	stomach
6	chr11:57745400-57751200	Weak transcription	Left Ventricle	heart
7	chr11:57745600-57750200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:57745800-57750800	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:57746200-57748000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:57746200-57748000	Enhancers	HSMM	muscle
11	chr11:57746600-57747400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:57746800-57747400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:57746800-57747800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:57747000-57747200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:57747000-57747400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:57747000-57749800	Enhancers	HepG2	liver

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

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