Variant report

Variant	rs55946491
Chromosome Location	chr2:152169116-152169117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10207595	0.88[EUR][1000 genomes]
rs11694240	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622615	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13383563	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172341	0.81[EUR][1000 genomes]
rs2113509	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161841	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638170	0.85[EUR][1000 genomes]
rs289830	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs289831	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs289834	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs289836	0.93[EUR][1000 genomes]
rs289838	0.81[EUR][1000 genomes]
rs289839	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs289840	0.81[EUR][1000 genomes]
rs289882	0.89[EUR][1000 genomes]
rs289883	0.89[EUR][1000 genomes]
rs289887	0.88[EUR][1000 genomes]
rs289916	0.89[EUR][1000 genomes]
rs453226	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56206702	0.84[EUR][1000 genomes]
rs60381734	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725961	0.84[EUR][1000 genomes]
rs6734376	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744327	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744450	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747930	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152163800-152171600	Weak transcription	HSMM	muscle
2	chr2:152164000-152171600	Weak transcription	HSMMtube	muscle
3	chr2:152167600-152171400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:152168400-152173800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:152168600-152169200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:152168600-152169200	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:152168600-152169400	Enhancers	Fetal Muscle Leg	muscle
8	chr2:152168800-152169200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr2:152168800-152169400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:152168800-152169600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:152168800-152169600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:152168800-152169600	Enhancers	Adipose Nuclei	Adipose
13	chr2:152169000-152169200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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