Variant report

Variant	rs9329246
Chromosome Location	chr8:11392880-11392881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11390853..11393388-chr8:11395895..11397560,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10903339	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11250141	0.89[JPT][hapmap]
rs11250142	0.82[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs11250143	0.87[ASN][1000 genomes]
rs11250144	0.83[CHB][hapmap]
rs11990277	0.89[JPT][hapmap]
rs11991127	0.84[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12674768	0.84[JPT][hapmap]
rs12677903	0.92[JPT][hapmap]
rs13277113	0.87[MEX][hapmap]
rs1382566	0.88[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs1478897	0.88[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17153385	0.88[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs17153419	0.82[CHB][hapmap];0.89[CHD][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2021819	0.93[ASN][1000 genomes]
rs2248696	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2248700	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2248932	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2249259	0.94[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs2409784	0.81[LWK][hapmap]
rs2618435	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2618437	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2618455	0.83[JPT][hapmap]
rs2618456	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs2618476	0.86[MEX][hapmap]
rs2729934	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729935	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736356	0.80[ASN][1000 genomes]
rs2736359	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2736360	0.88[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs2898282	0.91[ASN][1000 genomes]
rs35451117	0.89[ASN][1000 genomes]
rs4366049	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4841550	0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs57240873	0.97[ASN][1000 genomes]
rs58373594	0.97[ASN][1000 genomes]
rs62489135	0.94[ASN][1000 genomes]
rs62489136	0.90[ASN][1000 genomes]
rs62489137	0.93[ASN][1000 genomes]
rs62489140	0.85[ASN][1000 genomes]
rs6981617	0.88[ASN][1000 genomes]
rs7004267	0.86[ASN][1000 genomes]
rs7014565	0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs73209286	0.86[ASN][1000 genomes]
rs73209290	0.93[ASN][1000 genomes]
rs7814834	0.89[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs7828916	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7844858	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs922483	0.86[MEX][hapmap]
rs9657551	0.86[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs998683	0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 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
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv520117	chr8:11391650-11429147	Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv465466	chr8:11391650-11429147	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv610289	chr8:11391650-11429147	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv465467	chr8:11391650-11430485	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv610290	chr8:11391650-11430485	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv397436	chr8:11392835-11400779	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2761407	chr8:11392880-11429147	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1029589	chr8:11392880-11429147	ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9329246	PRSS55	cis	cerebellum	SCAN
rs9329246	MFHAS1	cis	cerebellum	SCAN
rs9329246	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs9329246	TDH	cis	cerebellum	SCAN
rs9329246	C8orf48	cis	cerebellum	SCAN
rs9329246	FAM167A	cis	lymphoblastoid	seeQTL
rs9329246	FLJ10661	cis	cerebellum	SCAN
rs9329246	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs9329246	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11391400-11395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:11391800-11394800	Genic enhancers	Primary B cells from cord blood	blood
4	chr8:11392200-11393000	Enhancers	GM12878-XiMat	blood
5	chr8:11392200-11395600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr8:11392200-11397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:11392400-11394800	Weak transcription	Fetal Thymus	thymus
8	chr8:11392400-11396800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:11392400-11397200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:11392400-11403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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