Variant report

Variant	rs11038522
Chromosome Location	chr11:45555870-45555871
allele	A/C
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	ZNF143	chr11:45555719-45556060	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZNF143	chr11:45555859-45555899	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr11:45555745-45556054	K562	blood:	n/a	n/a
4	ZNF143	chr11:45555858-45555949	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254746	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10160472	1.00[CEU][hapmap]
rs10160502	1.00[CEU][hapmap]
rs10501315	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10838479	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038417	1.00[CEU][hapmap]
rs11038429	0.82[EUR][1000 genomes]
rs11038431	0.86[EUR][1000 genomes]
rs11038432	0.86[EUR][1000 genomes]
rs11038433	0.86[EUR][1000 genomes]
rs11038434	0.87[EUR][1000 genomes]
rs11038435	0.87[EUR][1000 genomes]
rs11038437	0.87[EUR][1000 genomes]
rs11038442	0.87[EUR][1000 genomes]
rs11038443	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11038444	0.87[EUR][1000 genomes]
rs11038450	0.89[EUR][1000 genomes]
rs11038451	0.89[EUR][1000 genomes]
rs11038455	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038456	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038457	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038458	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038459	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11038461	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11038462	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038465	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038466	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038467	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038469	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038471	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11038472	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11038473	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038474	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038475	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038477	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038479	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038481	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038482	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038483	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038485	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11038486	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038487	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038491	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11038492	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038493	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038494	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038495	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038496	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038497	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038498	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11038510	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11038515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11038520	1.00[EUR][1000 genomes]
rs11038525	0.87[CEU][hapmap]
rs11038528	0.87[CEU][hapmap]
rs11038543	0.85[CEU][hapmap]
rs11038549	0.87[CEU][hapmap]
rs11038550	0.87[CEU][hapmap]
rs11038551	0.87[CEU][hapmap]
rs11038552	1.00[CEU][hapmap]
rs1107209	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12360696	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12361372	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12363740	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12364278	0.89[EUR][1000 genomes]
rs12364661	0.89[EUR][1000 genomes]
rs12365430	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12365467	1.00[CEU][hapmap]
rs12365982	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12366014	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1488668	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1488669	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1488670	0.91[EUR][1000 genomes]
rs17723819	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17724032	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17724086	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17724240	0.87[CEU][hapmap]
rs17785901	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17786039	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17786178	0.87[CEU][hapmap]
rs1844150	0.89[EUR][1000 genomes]
rs2044877	0.81[EUR][1000 genomes]
rs72893316	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72893332	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72893337	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72893356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897475	0.86[EUR][1000 genomes]
rs72899480	0.87[EUR][1000 genomes]
rs72899488	0.89[EUR][1000 genomes]
rs72901403	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72901422	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72901426	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72901447	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72901450	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72901459	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72901500	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72903035	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72903086	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72903094	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72905021	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72905025	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72905092	0.91[EUR][1000 genomes]
rs72905093	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72906922	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72906947	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs971897	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11038522	HEBP2	trans	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45540200-45560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:45553400-45559600	Weak transcription	Brain Anterior Caudate	brain
3	chr11:45554200-45570600	Weak transcription	Brain Germinal Matrix	brain
4	chr11:45554400-45557400	Weak transcription	Fetal Brain Female	brain
5	chr11:45554600-45557200	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:45554600-45559600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:45554600-45563000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:45554800-45563000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:45555000-45557200	Weak transcription	Fetal Brain Male	brain
10	chr11:45555800-45556200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:45555800-45556200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:45555800-45556200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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