Variant report

Variant	rs42092
Chromosome Location	chr7:27706446-27706447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27701957..27704245-chr7:27706162..27711056,8	K562	blood:
2	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
3	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:
4	chr7:27702921..27706495-chr7:27708435..27711221,3	K562	blood:
5	chr7:27701471..27705050-chr7:27705971..27708434,5	K562	blood:
6	chr7:27704178..27705871-chr7:27706001..27707559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106052	Chromatin interaction
ENSG00000106049	Chromatin interaction
ENSG00000229893	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10081338	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10081339	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1015265	0.85[AMR][1000 genomes]
rs10447552	0.89[AMR][1000 genomes]
rs10486548	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10951173	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10951175	0.81[AMR][1000 genomes]
rs11764753	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11973492	0.84[AMR][1000 genomes]
rs12155430	0.89[AMR][1000 genomes]
rs12530626	0.85[AMR][1000 genomes]
rs12531518	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12535844	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12540063	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12665991	0.86[AMR][1000 genomes]
rs12670771	0.86[AMR][1000 genomes]
rs12672811	0.89[AMR][1000 genomes]
rs12673949	0.83[AMR][1000 genomes]
rs12700823	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12700824	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12700825	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12700828	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12700829	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12700830	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13242248	0.89[AMR][1000 genomes]
rs13244903	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13246464	0.87[AMR][1000 genomes]
rs1404282	0.83[AMR][1000 genomes]
rs1524529	0.83[AMR][1000 genomes]
rs1608663	0.83[AMR][1000 genomes]
rs1980330	0.83[AMR][1000 genomes]
rs2041715	0.83[AMR][1000 genomes]
rs2160125	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2391444	0.81[AMR][1000 genomes]
rs2391445	0.84[AMR][1000 genomes]
rs2391446	0.84[AMR][1000 genomes]
rs2391447	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2391448	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2391449	0.84[AMR][1000 genomes]
rs2391451	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2391452	0.89[AMR][1000 genomes]
rs2391453	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2391454	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs42085	0.89[AMR][1000 genomes]
rs42087	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4722726	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4722728	0.89[AMR][1000 genomes]
rs56139857	0.84[AMR][1000 genomes]
rs6462033	0.83[AMR][1000 genomes]
rs6462039	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6943883	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6945993	0.84[AMR][1000 genomes]
rs6946305	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6948460	0.89[AMR][1000 genomes]
rs6954905	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6957378	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6959495	0.89[AMR][1000 genomes]
rs6963421	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6966091	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6966587	0.89[AMR][1000 genomes]
rs6974932	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs759270	0.84[AMR][1000 genomes]
rs759271	0.84[AMR][1000 genomes]
rs7779990	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782422	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7786973	0.83[AMR][1000 genomes]
rs7790498	0.86[AMR][1000 genomes]
rs7806415	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7808275	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs961723	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs961724	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs961725	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9639559	0.83[AMR][1000 genomes]
rs974883	0.83[AMR][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
rs42092	HIBADH	Cis_1M	lymphoblastoid	RTeQTL
rs42092	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27703200-27708200	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:27703600-27708000	Weak transcription	Right Atrium	heart
3	chr7:27704200-27711000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:27705000-27710000	Weak transcription	HepG2	liver
5	chr7:27705200-27709600	Weak transcription	K562	blood

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