Variant report

Variant	rs2251056
Chromosome Location	chr8:11349576-11349577
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	RELA	chr8:11349290-11350199	GM15510	blood:	n/a	n/a
2	STAT5A	chr8:11349083-11353262	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942 chr8:11351042-11351049 chr8:11352671-11352682
3	RCOR1	chr8:11349075-11352611	GM12878	blood:	n/a	n/a
4	FOXM1	chr8:11348939-11352758	GM12878	blood:	n/a	n/a
5	NFATC1	chr8:11349083-11352677	GM12878	blood:	n/a	n/a
6	MAX	chr8:11349289-11352553	GM12878	blood:	n/a	chr8:11350650-11350660 chr8:11350650-11350659 chr8:11351841-11351851
7	POLR2A	chr8:11349424-11352600	GM12878	blood:	n/a	n/a
8	BHLHE40	chr8:11349162-11351476	GM12878	blood:	n/a	n/a
9	BCLAF1	chr8:11348871-11353485	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714 chr8:11349172-11349179
10	RELA	chr8:11349255-11351265	GM12891	blood:	n/a	n/a
11	PAX5	chr8:11349265-11349928	GM12878	blood:	n/a	chr8:11349705-11349714
12	MEF2A	chr8:11349157-11350487	GM12878	blood:	n/a	chr8:11349692-11349707 chr8:11349744-11349752 chr8:11349692-11349707 chr8:11350128-11350136
13	PAX5	chr8:11349343-11349757	GM12892	blood:	n/a	chr8:11349705-11349714
14	NFATC1	chr8:11349138-11353285	GM12878	blood:	n/a	n/a
15	IRF4	chr8:11349311-11350068	GM12878	blood:	n/a	n/a
16	CREB1	chr8:11349212-11350576	GM12878	blood:	n/a	n/a
17	NFIC	chr8:11348816-11353401	GM12878	blood:	n/a	chr8:11352085-11352101
18	POLR2A	chr8:11349389-11352610	GM12878	blood:	n/a	n/a
19	BATF	chr8:11349196-11350520	GM12878	blood:	n/a	chr8:11349740-11349749
20	FAM48A	chr8:11349500-11349700	GM12878	blood:	n/a	n/a
21	RELA	chr8:11349256-11351231	GM18951	blood:	n/a	n/a
22	POU2F2	chr8:11349275-11349925	GM12891	blood:	n/a	chr8:11349446-11349454 chr8:11349440-11349461 chr8:11349445-11349455 chr8:11349445-11349456 chr8:11349441-11349459
23	CHD2	chr8:11349285-11351579	GM12878	blood:	n/a	n/a
24	STAT5A	chr8:11348975-11350956	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942
25	PAX5	chr8:11349279-11350046	GM12878	blood:	n/a	chr8:11349705-11349714
26	POU2F2	chr8:11349288-11349965	GM12878	blood:	n/a	chr8:11349446-11349454 chr8:11349440-11349461 chr8:11349445-11349455 chr8:11349445-11349456 chr8:11349441-11349459
27	PAX5	chr8:11349223-11349857	GM12892	blood:	n/a	chr8:11349705-11349714
28	POLR2A	chr8:11349245-11349852	GM12891	blood:	n/a	n/a
29	RELA	chr8:11349085-11352720	GM12878	blood:	n/a	n/a
30	POU2F2	chr8:11349208-11349985	GM12891	blood:	n/a	chr8:11349446-11349454 chr8:11349440-11349461 chr8:11349445-11349455 chr8:11349445-11349456 chr8:11349441-11349459
31	PAX5	chr8:11349175-11349889	GM12891	blood:	n/a	chr8:11349705-11349714
32	TCF12	chr8:11349338-11349937	GM12878	blood:	n/a	n/a
33	MEF2C	chr8:11349095-11350038	GM12878	blood:	n/a	chr8:11349692-11349707 chr8:11349744-11349752 chr8:11349692-11349707 chr8:11349151-11349162
34	SPI1	chr8:11349414-11350246	GM12891	blood:	n/a	n/a
35	ZNF143	chr8:11348992-11349905	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:11348731-11357871	GM12878	blood:	n/a	n/a
37	PAX5	chr8:11349302-11349832	GM12891	blood:	n/a	chr8:11349705-11349714
38	FOXM1	chr8:11349085-11352717	GM12878	blood:	n/a	n/a
39	BCL11A	chr8:11349266-11350031	GM12878	blood:	n/a	chr8:11349705-11349714
40	ETS1	chr8:11349516-11350049	GM12878	blood:	n/a	n/a
41	SPI1	chr8:11349183-11351453	GM12878	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
42	TCF12	chr8:11349251-11350507	GM12878	blood:	n/a	n/a
43	ZNF384	chr8:11349300-11350317	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:11349332-11352688	GM12892	blood:	n/a	n/a
45	TAF1	chr8:11349235-11350708	GM12878	blood:	n/a	n/a
46	MTA3	chr8:11349139-11352733	GM12878	blood:	n/a	n/a
47	BCL3	chr8:11349413-11349945	GM12878	blood:	n/a	chr8:11349705-11349714
48	BCLAF1	chr8:11349213-11352688	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714
49	TCF3	chr8:11349320-11351311	GM12878	blood:	n/a	chr8:11350864-11350879
50	MXI1	chr8:11349147-11352672	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs13256690	0.90[ASN][1000 genomes]
rs13277113	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1382568	0.86[ASN][1000 genomes]
rs1478895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1478900	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1478901	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1531577	0.91[ASN][1000 genomes]
rs1564267	0.85[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2061831	0.82[ASN][1000 genomes]
rs2244234	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2250412	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2250788	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254546	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2254660	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2254891	0.87[ASN][1000 genomes]
rs2409780	0.80[ASN][1000 genomes]
rs2618444	0.80[ASN][1000 genomes]
rs2618455	0.81[CHB][hapmap]
rs2618456	0.81[CHB][hapmap]
rs2618457	0.81[CHB][hapmap]
rs2618473	0.84[ASN][1000 genomes]
rs2618476	0.93[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2618478	0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2618479	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2618480	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2618481	0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2736332	0.83[ASN][1000 genomes]
rs2736335	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2736340	0.84[ASN][1000 genomes]
rs2736343	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2736344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2736345	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2736353	0.80[CHB][hapmap]
rs2736354	0.81[CHB][hapmap]
rs2736355	0.81[CHB][hapmap]
rs35393613	0.87[ASN][1000 genomes]
rs4840565	0.94[ASN][1000 genomes]
rs4840568	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs62489069	0.87[ASN][1000 genomes]
rs6993775	0.81[CHB][hapmap]
rs7812879	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922483	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9693589	0.83[ASN][1000 genomes]
rs9694294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs998682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs998683	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2251056	C8orf13	cis	multi-tissue	Pritchard

Chromatin state (count:27 , 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	chr8:11348000-11350200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:11348400-11349800	Enhancers	Primary B cells from cord blood	blood
6	chr8:11349000-11349600	Enhancers	Duodenum Mucosa	Duodenum
7	chr8:11349000-11350200	Enhancers	Dnd41	blood
8	chr8:11349000-11350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:11349000-11351600	Enhancers	Fetal Thymus	thymus
10	chr8:11349000-11351800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:11349000-11351800	Enhancers	Thymus	Thymus
12	chr8:11349200-11349600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:11349200-11350400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:11349200-11350400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr8:11349200-11350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:11349400-11349600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr8:11349400-11349600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:11349400-11349600	Enhancers	NHDF-Ad	bronchial
19	chr8:11349400-11349800	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:11349400-11349800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr8:11349400-11349800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:11349400-11349800	Enhancers	GM12878-XiMat	blood
23	chr8:11349400-11350000	Enhancers	Osteobl	bone
24	chr8:11349400-11350400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:11349400-11350400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:11349400-11350400	Enhancers	NH-A	brain
27	chr8:11349400-11350600	Enhancers	Primary T cells fromperipheralblood	blood

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