Variant report

Variant	rs7567973
Chromosome Location	chr2:191188213-191188214
allele	A/G
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	GATA1	chr2:191188076-191188606	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191184750..191186852-chr2:191187737..191189507,2	MCF-7	breast:
2	chr2:191184610..191187211-chr2:191187785..191189315,2	K562	blood:

Variant related genes	Relation type
HIBCH	TF binding region
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1058180	0.81[AMR][1000 genomes]
rs10931450	0.83[EUR][1000 genomes]
rs11683636	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11684995	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11685119	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11689196	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11692448	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1583878	0.80[AMR][1000 genomes]
rs16832420	0.80[AMR][1000 genomes]
rs16832512	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs176712	0.81[AMR][1000 genomes]
rs2016037	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2028431	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2067398	0.87[EUR][1000 genomes]
rs2067402	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2067411	0.87[EUR][1000 genomes]
rs2067418	0.90[EUR][1000 genomes]
rs2067419	0.90[EUR][1000 genomes]
rs2099127	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2136568	0.82[EUR][1000 genomes]
rs2136570	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2136571	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2354871	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2582738	0.81[AMR][1000 genomes]
rs2582740	0.81[AMR][1000 genomes]
rs2582742	0.81[AMR][1000 genomes]
rs2582745	0.81[AMR][1000 genomes]
rs2582747	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2582749	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2582753	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2582769	0.81[AMR][1000 genomes]
rs2582771	0.80[AMR][1000 genomes]
rs2582772	0.80[AMR][1000 genomes]
rs2664241	0.81[AMR][1000 genomes]
rs2664249	0.81[AMR][1000 genomes]
rs2664255	0.81[AMR][1000 genomes]
rs2664256	0.81[AMR][1000 genomes]
rs2664261	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2664266	0.80[AMR][1000 genomes]
rs2664269	0.81[AMR][1000 genomes]
rs291414	0.80[AMR][1000 genomes]
rs291419	0.80[AMR][1000 genomes]
rs291422	0.81[AMR][1000 genomes]
rs291424	0.80[AMR][1000 genomes]
rs291425	0.80[AMR][1000 genomes]
rs291426	0.83[AMR][1000 genomes]
rs291434	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291435	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291436	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291437	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291438	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291439	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291440	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291441	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291442	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291446	0.90[AMR][1000 genomes]
rs291455	0.81[AMR][1000 genomes]
rs291463	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2919676	0.83[ASN][1000 genomes]
rs2966470	0.80[AMR][1000 genomes]
rs35214387	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3791792	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3791800	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791805	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791806	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3791813	0.84[EUR][1000 genomes]
rs3791815	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4146044	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4853689	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4853693	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55684836	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55742982	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56742312	0.81[EUR][1000 genomes]
rs57199157	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58400804	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60068799	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60469543	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60986316	0.86[EUR][1000 genomes]
rs61038868	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6434381	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66867328	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6723792	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6752703	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67791002	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72625302	0.82[ASN][1000 genomes]
rs72627903	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72627904	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72627905	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72627906	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7599085	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs760307	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7567973	HIBCH	cis	Thyroid	GTEx
rs7567973	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs7567973	HIBCH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191184800-191188800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191185600-191190000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:191185800-191188800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:191186000-191194600	Weak transcription	K562	blood

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