Variant report

Variant	rs9693589
Chromosome Location	chr8:11348961-11348962
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	FOXM1	chr8:11348939-11352758	GM12878	blood:	n/a	n/a
2	BCLAF1	chr8:11348871-11353485	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714 chr8:11349172-11349179
3	NFIC	chr8:11348816-11353401	GM12878	blood:	n/a	chr8:11352085-11352101
4	POLR2A	chr8:11348731-11357871	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:11348849-11349227	GM12891	blood:	n/a	n/a
6	POLR2A	chr8:11348901-11349162	GM12878	blood:	n/a	n/a
7	RELA	chr8:11348954-11351628	GM10847	blood:	n/a	n/a
8	POLR2A	chr8:11348894-11357440	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:11348840-11353431	Raji	blood:	n/a	n/a
10	POLR2A	chr8:11348797-11357460	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:11348826-11357664	GM18505	blood:	n/a	n/a
12	YY1	chr8:11348929-11349201	GM12878	blood:	n/a	chr8:11349097-11349108
13	PML	chr8:11348838-11353257	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:11348927-11353187	GM12878	blood:	n/a	n/a
15	MTA3	chr8:11348542-11357777	GM12878	blood:	n/a	n/a
16	NFYB	chr8:11348806-11349021	GM12878	blood:	n/a	n/a
17	ATF2	chr8:11348914-11352994	GM12878	blood:	n/a	n/a
18	YY1	chr8:11348912-11349969	GM12878	blood:	n/a	chr8:11349097-11349108
19	RUNX3	chr8:11348819-11353505	GM12878	blood:	n/a	n/a
20	RUNX3	chr8:11348786-11351377	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:11348933-11349170	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:11348798-11353058	GM12892	blood:	n/a	n/a
23	NFIC	chr8:11348885-11352575	GM12878	blood:	n/a	chr8:11352085-11352101
24	POU2F2	chr8:11348869-11352671	GM12878	blood:	n/a	chr8:11349446-11349454 chr8:11349440-11349461 chr8:11349445-11349455 chr8:11349445-11349456 chr8:11351837-11351849 chr8:11349441-11349459
25	POLR2A	chr8:11348956-11352660	GM12892	blood:	n/a	n/a
26	POLR2A	chr8:11348812-11353227	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs13277113	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382568	0.93[ASN][1000 genomes]
rs1478887	0.91[ASN][1000 genomes]
rs1478895	0.83[ASN][1000 genomes]
rs1478900	0.85[ASN][1000 genomes]
rs1478901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2061831	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250412	0.82[ASN][1000 genomes]
rs2250788	0.83[ASN][1000 genomes]
rs2251056	0.83[ASN][1000 genomes]
rs2254546	0.82[ASN][1000 genomes]
rs2254891	0.80[ASN][1000 genomes]
rs2409780	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2618444	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2618473	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2618476	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2618478	0.82[ASN][1000 genomes]
rs2618479	0.82[ASN][1000 genomes]
rs2618480	0.83[ASN][1000 genomes]
rs2618481	0.93[ASN][1000 genomes]
rs2736332	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2736336	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736337	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736338	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2736343	0.83[ASN][1000 genomes]
rs2736344	0.83[ASN][1000 genomes]
rs2736345	0.84[ASN][1000 genomes]
rs4840565	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4840568	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs922483	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9694294	0.83[ASN][1000 genomes]
rs998682	0.83[ASN][1000 genomes]
rs998683	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2762725	chr8:11322997-11350721	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9693589	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs9693589	FAM167A	cis	Whole Blood	GTEx
rs9693589	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs9693589	BLK	cis	multi-tissue	Pritchard
rs9693589	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11338200-11350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:11344200-11353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:11348000-11349200	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:11348000-11350200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:11348400-11349800	Enhancers	Primary B cells from cord blood	blood
7	chr8:11348600-11349400	Flanking Active TSS	GM12878-XiMat	blood

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