Variant report

Variant	rs291470
Chromosome Location	chr2:191189558-191189559
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr2:191189388-191189562	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191188679..191191658-chr2:191193316..191194937,2	K562	blood:

Variant related genes	Relation type
HIBCH	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs12693568	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13006833	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs172366	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1876877	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2136566	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2136569	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2582735	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2582736	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2582746	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2582766	0.81[AMR][1000 genomes]
rs2582770	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2664251	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664252	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664253	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664259	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2664260	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291427	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291428	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291429	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291430	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs291431	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291444	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs291445	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs291447	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs291448	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs291449	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs291453	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs291458	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291459	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291460	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291461	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291462	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs291464	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs291466	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs291468	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291472	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2919677	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6434387	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs906916	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs291470	HIBCH	cis	Muscle Skeletal	GTEx
rs291470	HIBCH	cis	lung	GTEx
rs291470	HIBCH	cis	Stomach	GTEx
rs291470	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs291470	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs291470	HIBCH	cis	multi-tissue	Pritchard
rs291470	HIBCH	cis	Heart Left Ventricle	GTEx
rs291470	HIBCH	cis	Thyroid	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191185600-191190000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:191186000-191194600	Weak transcription	K562	blood

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