Variant report

Variant	rs1125128
Chromosome Location	chr2:145837441-145837442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145831278..145833894-chr2:145834820..145837755,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1006923	0.90[ASN][1000 genomes]
rs10206585	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10928241	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474485	1.00[ASN][1000 genomes]
rs12476923	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477111	0.90[ASN][1000 genomes]
rs12618916	0.83[AFR][1000 genomes]
rs12691704	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992411	0.90[ASN][1000 genomes]
rs12995180	1.00[ASN][1000 genomes]
rs13015800	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13384504	1.00[ASN][1000 genomes]
rs13389190	0.90[ASN][1000 genomes]
rs13428423	0.90[ASN][1000 genomes]
rs1830318	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1830320	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881409	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881410	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663966	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34029033	1.00[ASN][1000 genomes]
rs34372836	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35462154	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35805189	0.95[ASN][1000 genomes]
rs6430076	0.90[ASN][1000 genomes]
rs6430078	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6721988	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6747171	1.00[ASN][1000 genomes]
rs6747275	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749506	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7423637	1.00[ASN][1000 genomes]
rs7562803	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7604735	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs787427	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs957292	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957293	0.81[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	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	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
5	nsv875262	chr2:145830053-145888369	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv875263	chr2:145830053-145892427	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875264	chr2:145830053-145911634	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145830400-145863200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145833400-145842600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:145836200-145842400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:145836600-145837600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:145836600-145837600	Enhancers	NHDF-Ad	bronchial
6	chr2:145837400-145837600	Enhancers	Fetal Lung	lung

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