Variant report

Variant	rs9329232
Chromosome Location	chr8:10863154-10863155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10861649..10864572-chr8:10871901..10875246,3	K562	blood:
2	chr8:10857972..10860249-chr8:10861923..10863991,2	K562	blood:

Variant related genes	Relation type
ENSG00000171044	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10091913	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10107384	1.00[CEU][hapmap];0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10216472	0.87[CEU][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10217059	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11250103	0.91[CEU][hapmap]
rs11250108	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11779199	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11784312	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11988372	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11995682	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12216757	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12216784	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12216875	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4074822	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4320511	0.80[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4507728	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4840530	0.91[CEU][hapmap]
rs4841469	0.80[EUR][1000 genomes]
rs4841471	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4841472	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4841474	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4841475	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4841476	0.95[EUR][1000 genomes]
rs4841477	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4841478	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4841479	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56052312	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61427182	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6601546	0.95[CEU][hapmap];0.82[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6990395	0.93[EUR][1000 genomes]
rs7001599	0.90[EUR][1000 genomes]
rs7016361	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs73196884	0.96[EUR][1000 genomes]
rs73196885	0.96[EUR][1000 genomes]
rs73196888	0.90[EUR][1000 genomes]
rs7824797	1.00[CEU][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7826561	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7833832	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7836687	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7836720	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7837828	1.00[CEU][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7838833	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9657542	0.91[CEU][hapmap];0.96[AMR][1000 genomes];0.99[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9329232	CLDN23	cis	multi-tissue	Pritchard
rs9329232	INPPL1	trans	cerebellum	SCAN
rs9329232	FLJ10661	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10856200-10864800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:10859400-10865200	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:10859400-10872200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:10859800-10864800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:10860000-10864800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:10860000-10864800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:10860000-10865000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:10860000-10865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:10860000-10865000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:10860200-10864800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:10860200-10865000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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