Variant report

Variant	rs4840568
Chromosome Location	chr8:11351019-11351020
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	STAT5A	chr8:11349083-11353262	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942 chr8:11351042-11351049 chr8:11352671-11352682
2	SPI1	chr8:11350464-11351243	GM12891	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
3	RCOR1	chr8:11349075-11352611	GM12878	blood:	n/a	n/a
4	SPI1	chr8:11350641-11351162	GM12878	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051
5	FOXM1	chr8:11348939-11352758	GM12878	blood:	n/a	n/a
6	NFATC1	chr8:11349083-11352677	GM12878	blood:	n/a	n/a
7	MAX	chr8:11349289-11352553	GM12878	blood:	n/a	chr8:11350650-11350660 chr8:11350650-11350659 chr8:11351841-11351851
8	POLR2A	chr8:11349424-11352600	GM12878	blood:	n/a	n/a
9	YY1	chr8:11350786-11351331	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:11349162-11351476	GM12878	blood:	n/a	n/a
11	BCLAF1	chr8:11348871-11353485	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714 chr8:11349172-11349179
12	RELA	chr8:11349255-11351265	GM12891	blood:	n/a	n/a
13	NFATC1	chr8:11349138-11353285	GM12878	blood:	n/a	n/a
14	NFIC	chr8:11348816-11353401	GM12878	blood:	n/a	chr8:11352085-11352101
15	POLR2A	chr8:11349389-11352610	GM12878	blood:	n/a	n/a
16	TCF12	chr8:11350711-11351041	GM12878	blood:	n/a	n/a
17	POU2F2	chr8:11350796-11351257	GM12891	blood:	n/a	n/a
18	RELA	chr8:11349256-11351231	GM18951	blood:	n/a	n/a
19	CHD2	chr8:11349285-11351579	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:11350704-11352631	GM19099	blood:	n/a	n/a
21	IRF3	chr8:11350882-11351276	GM12878	blood:	n/a	n/a
22	TAF1	chr8:11350782-11351313	GM12878	blood:	n/a	n/a
23	PML	chr8:11350568-11351048	GM12878	blood:	n/a	n/a
24	RELA	chr8:11349085-11352720	GM12878	blood:	n/a	n/a
25	CUX1	chr8:11350534-11351253	GM12878	blood:	n/a	n/a
26	SPI1	chr8:11350452-11351236	GM12891	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
27	SPI1	chr8:11350953-11351103	K562	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051
28	POLR2A	chr8:11348731-11357871	GM12878	blood:	n/a	n/a
29	JUND	chr8:11350968-11351283	HepG2	liver:	n/a	chr8:11351131-11351140 chr8:11351158-11351167 chr8:11351213-11351221
30	ELK1	chr8:11350469-11351191	GM12878	blood:	n/a	n/a
31	SIN3A	chr8:11350777-11352549	GM12878	blood:	n/a	n/a
32	FOXM1	chr8:11349085-11352717	GM12878	blood:	n/a	n/a
33	ZNF143	chr8:11350943-11352413	GM12878	blood:	n/a	chr8:11351794-11351812
34	SPI1	chr8:11349183-11351453	GM12878	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
35	POLR2A	chr8:11349332-11352688	GM12892	blood:	n/a	n/a
36	YY1	chr8:11350832-11351451	GM12878	blood:	n/a	n/a
37	MTA3	chr8:11349139-11352733	GM12878	blood:	n/a	n/a
38	BCLAF1	chr8:11349213-11352688	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714
39	TCF3	chr8:11349320-11351311	GM12878	blood:	n/a	chr8:11350864-11350879
40	PAX5	chr8:11350738-11351244	GM12878	blood:	n/a	chr8:11351042-11351051
41	MXI1	chr8:11349147-11352672	GM12878	blood:	n/a	n/a
42	EBF1	chr8:11350795-11351996	GM12878	blood:	n/a	n/a
43	RELA	chr8:11348954-11351628	GM10847	blood:	n/a	n/a
44	POLR2A	chr8:11349422-11352626	GM19193	blood:	n/a	n/a
45	POLR2A	chr8:11348894-11357440	GM12878	blood:	n/a	n/a
46	ELF1	chr8:11350004-11351158	GM12878	blood:	n/a	chr8:11351043-11351054
47	POLR2A	chr8:11348840-11353431	Raji	blood:	n/a	n/a
48	BRCA1	chr8:11350951-11351238	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:11348797-11357460	GM12878	blood:	n/a	n/a
50	NRF1	chr8:11350454-11351491	GM12878	blood:	n/a	chr8:11350608-11350622

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12677843	0.91[MEX][hapmap]
rs13277113	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1382568	0.95[ASN][1000 genomes]
rs1478887	0.93[ASN][1000 genomes]
rs1478895	0.83[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1478900	0.89[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1478901	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1564267	0.83[CHB][hapmap];0.87[CHD][hapmap];0.81[JPT][hapmap]
rs1600249	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs2061831	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250412	0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2250788	0.84[ASN][1000 genomes]
rs2251056	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2254546	0.83[ASN][1000 genomes]
rs2254660	0.81[ASN][1000 genomes]
rs2254891	0.82[ASN][1000 genomes]
rs2409780	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2409781	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2618444	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2618471	0.81[ASN][1000 genomes]
rs2618473	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2618476	0.87[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2618478	0.89[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2618479	0.89[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs2618480	0.84[ASN][1000 genomes]
rs2618481	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2736332	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736336	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736337	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736338	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2736340	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2736343	0.82[ASN][1000 genomes]
rs2736344	0.83[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2736345	0.81[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2736346	0.83[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs2736347	0.81[ASN][1000 genomes]
rs4840565	0.83[ASN][1000 genomes]
rs922483	0.82[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9693589	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9694294	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs998682	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs998683	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4840568	FAM167A	cis	lymphoblastoid	GTEx
rs4840568	FAM167A	cis	lymphoblastoid	seeQTL
rs4840568	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs4840568	BLK	cis	multi-tissue	Pritchard
rs4840568	C8orf13	cis	multi-tissue	Pritchard
rs4840568	MFHAS1	cis	cerebellum	SCAN
rs4840568	BLK	cis	lymphoblastoid	seeQTL
rs4840568	PRSS55	cis	cerebellum	SCAN
rs4840568	BLK	cis	Lymphoblastoid	GTEx
rs4840568	C8orf13	Cis_1M	lymphoblastoid	RTeQTL
rs4840568	FAM167A	cis	Lymphoblastoid	GTEx

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11339000-11353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:11344200-11353800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:11349000-11351600	Enhancers	Fetal Thymus	thymus
4	chr8:11349000-11351800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr8:11349000-11351800	Enhancers	Thymus	Thymus
6	chr8:11349600-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:11349800-11351800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr8:11349800-11351800	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr8:11349800-11351800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:11349800-11352000	Flanking Active TSS	GM12878-XiMat	blood
11	chr8:11349800-11354000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:11350000-11352200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:11350000-11352600	Weak transcription	Osteobl	bone
14	chr8:11350200-11351800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:11350200-11356600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:11350400-11351600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:11350400-11351800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:11350400-11351800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr8:11350400-11352800	Weak transcription	NH-A	brain
20	chr8:11350400-11354200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:11350400-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:11350400-11355400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr8:11350600-11351200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr8:11350600-11351400	Weak transcription	Primary T cells from cord blood	blood
25	chr8:11350600-11352000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr8:11350600-11354200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr8:11350800-11351200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:11350800-11351600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:11350800-11351800	Flanking Active TSS	Dnd41	blood
30	chr8:11350800-11352200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:11350800-11353800	Weak transcription	NHDF-Ad	bronchial
32	chr8:11351000-11351200	Enhancers	Pancreas	Pancrea
33	chr8:11351000-11352800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:11351000-11353200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr8:11351000-11354800	Weak transcription	Primary hematopoietic stem cells	blood

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