Variant report

Variant	rs62454947
Chromosome Location	chr7:27744312-27744313
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27740264..27742549-chr7:27743332..27746196,2	K562	blood:
2	chr7:27741492..27744405-chr7:27746292..27747950,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11763499	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766320	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155666	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611937	0.92[EUR][1000 genomes]
rs17685046	0.93[EUR][1000 genomes]
rs2108309	0.80[ASN][1000 genomes]
rs2237337	0.92[EUR][1000 genomes]
rs2391486	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55714615	0.94[EUR][1000 genomes]
rs55738305	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56137979	0.93[EUR][1000 genomes]
rs61538692	0.93[EUR][1000 genomes]
rs62449631	0.92[EUR][1000 genomes]
rs62454807	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462043	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950949	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957836	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958125	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974060	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6974991	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808062	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs960293	0.92[EUR][1000 genomes]
rs960294	0.92[EUR][1000 genomes]
rs9638846	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638847	0.93[EUR][1000 genomes]
rs9639563	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9639564	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62454947	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27738200-27749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:27742200-27744400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:27742400-27745800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:27743200-27744400	Weak transcription	Osteobl	bone
5	chr7:27743200-27744800	Enhancers	HSMM	muscle
6	chr7:27744000-27744400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:27744000-27745800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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