Variant report

Variant	rs42111
Chromosome Location	chr7:27722581-27722582
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27716474..27720411-chr7:27722310..27724514,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10447552	0.91[EUR][1000 genomes]
rs10951175	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1115346	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1115347	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11762342	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11763449	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11973492	0.91[EUR][1000 genomes]
rs12155430	0.91[EUR][1000 genomes]
rs12530626	0.90[EUR][1000 genomes]
rs12535844	0.92[EUR][1000 genomes]
rs12665991	0.88[EUR][1000 genomes]
rs12667610	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12670771	0.86[EUR][1000 genomes]
rs12672811	0.90[EUR][1000 genomes]
rs13242248	0.91[EUR][1000 genomes]
rs13244903	0.92[EUR][1000 genomes]
rs13246464	0.83[EUR][1000 genomes]
rs2391449	0.88[EUR][1000 genomes]
rs2391452	0.90[EUR][1000 genomes]
rs2391453	0.92[EUR][1000 genomes]
rs42085	0.90[EUR][1000 genomes]
rs4722724	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4722728	0.90[EUR][1000 genomes]
rs56139857	0.91[EUR][1000 genomes]
rs6415251	0.85[EUR][1000 genomes]
rs6462038	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6462042	0.91[AFR][1000 genomes]
rs6944610	0.87[EUR][1000 genomes]
rs6945993	0.91[EUR][1000 genomes]
rs6948460	0.87[EUR][1000 genomes]
rs6959495	0.90[EUR][1000 genomes]
rs6963421	0.92[EUR][1000 genomes]
rs6966587	0.91[EUR][1000 genomes]
rs6970104	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6974387	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6974932	0.92[EUR][1000 genomes]
rs7790498	0.87[EUR][1000 genomes]
rs7806812	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7809748	0.80[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs42111	HIBADH	cis	multi-tissue	Pritchard
rs42111	HIBADH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27718600-27723800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:27719200-27726000	Weak transcription	Osteobl	bone
3	chr7:27720800-27724800	Weak transcription	HepG2	liver
4	chr7:27720800-27726000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:27720800-27727600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:27721000-27726000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:27721000-27726000	Weak transcription	NHDF-Ad	bronchial

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