Variant report

Variant	rs4662414
Chromosome Location	chr2:145818432-145818433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10192407	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10496972	0.86[ASN][1000 genomes]
rs10928240	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1106909	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12618061	0.86[ASN][1000 genomes]
rs12618916	0.87[EUR][1000 genomes]
rs12691705	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12990539	0.86[ASN][1000 genomes]
rs13028626	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408842	0.87[EUR][1000 genomes]
rs1830319	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830321	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1852684	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1852685	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1852687	0.81[EUR][1000 genomes]
rs1976974	0.81[EUR][1000 genomes]
rs2252641	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2381686	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2381687	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28709970	0.87[EUR][1000 genomes]
rs6725803	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7561039	0.86[ASN][1000 genomes]
rs7575637	0.81[ASN][1000 genomes]
rs7592365	0.81[EUR][1000 genomes]
rs7593336	0.80[EUR][1000 genomes]
rs787428	0.85[EUR][1000 genomes]
rs787429	0.85[EUR][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145815800-145819400	Enhancers	HMEC	breast
2	chr2:145816000-145819400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:145816200-145819200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:145816600-145822000	Weak transcription	NHDF-Ad	bronchial
5	chr2:145817200-145819200	Enhancers	NHEK	skin
6	chr2:145817200-145820800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:145817600-145819000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:145818200-145818800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:145818200-145819000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:145818200-145819000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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