Variant report

Variant	rs73537729
Chromosome Location	chr8:11349950-11349951
allele	C/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	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	MEF2A	chr8:11349157-11350487	GM12878	blood:	n/a	chr8:11349692-11349707 chr8:11349744-11349752 chr8:11349692-11349707 chr8:11350128-11350136
12	NFATC1	chr8:11349138-11353285	GM12878	blood:	n/a	n/a
13	IRF4	chr8:11349311-11350068	GM12878	blood:	n/a	n/a
14	CREB1	chr8:11349212-11350576	GM12878	blood:	n/a	n/a
15	NFIC	chr8:11348816-11353401	GM12878	blood:	n/a	chr8:11352085-11352101
16	POLR2A	chr8:11349389-11352610	GM12878	blood:	n/a	n/a
17	BATF	chr8:11349196-11350520	GM12878	blood:	n/a	chr8:11349740-11349749
18	RELA	chr8:11349256-11351231	GM18951	blood:	n/a	n/a
19	CHD2	chr8:11349285-11351579	GM12878	blood:	n/a	n/a
20	STAT5A	chr8:11348975-11350956	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942
21	PAX5	chr8:11349279-11350046	GM12878	blood:	n/a	chr8:11349705-11349714
22	POU2F2	chr8:11349288-11349965	GM12878	blood:	n/a	chr8:11349446-11349454 chr8:11349440-11349461 chr8:11349445-11349455 chr8:11349445-11349456 chr8:11349441-11349459
23	RELA	chr8:11349085-11352720	GM12878	blood:	n/a	n/a
24	POU2F2	chr8:11349208-11349985	GM12891	blood:	n/a	chr8:11349446-11349454 chr8:11349440-11349461 chr8:11349445-11349455 chr8:11349445-11349456 chr8:11349441-11349459
25	MEF2C	chr8:11349095-11350038	GM12878	blood:	n/a	chr8:11349692-11349707 chr8:11349744-11349752 chr8:11349692-11349707 chr8:11349151-11349162
26	SPI1	chr8:11349414-11350246	GM12891	blood:	n/a	n/a
27	POLR2A	chr8:11348731-11357871	GM12878	blood:	n/a	n/a
28	FOXM1	chr8:11349085-11352717	GM12878	blood:	n/a	n/a
29	BCL11A	chr8:11349266-11350031	GM12878	blood:	n/a	chr8:11349705-11349714
30	ETS1	chr8:11349516-11350049	GM12878	blood:	n/a	n/a
31	SPI1	chr8:11349183-11351453	GM12878	blood:	n/a	chr8:11351043-11351052 chr8:11351041-11351054 chr8:11351042-11351055 chr8:11351044-11351051 chr8:11350562-11350571
32	TCF12	chr8:11349251-11350507	GM12878	blood:	n/a	n/a
33	ZNF384	chr8:11349300-11350317	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:11349332-11352688	GM12892	blood:	n/a	n/a
35	TAF1	chr8:11349235-11350708	GM12878	blood:	n/a	n/a
36	MTA3	chr8:11349139-11352733	GM12878	blood:	n/a	n/a
37	BCLAF1	chr8:11349213-11352688	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714
38	TCF3	chr8:11349320-11351311	GM12878	blood:	n/a	chr8:11350864-11350879
39	MXI1	chr8:11349147-11352672	GM12878	blood:	n/a	n/a
40	BCL11A	chr8:11349298-11350028	GM12878	blood:	n/a	chr8:11349705-11349714
41	RELA	chr8:11348954-11351628	GM10847	blood:	n/a	n/a
42	POLR2A	chr8:11349422-11352626	GM19193	blood:	n/a	n/a
43	POLR2A	chr8:11349408-11350481	GM12878	blood:	n/a	n/a
44	ZEB1	chr8:11349601-11349965	GM12878	blood:	n/a	n/a
45	POLR2A	chr8:11348894-11357440	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:11348840-11353431	Raji	blood:	n/a	n/a
47	POLR2A	chr8:11348797-11357460	GM12878	blood:	n/a	n/a
48	STAT3	chr8:11349242-11350410	GM12878	blood:	n/a	chr8:11349703-11349714 chr8:11349930-11349942
49	PAX5	chr8:11349230-11350747	GM12878	blood:	n/a	chr8:11349705-11349714
50	TCF12	chr8:11349427-11350106	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1060701	0.93[ASN][1000 genomes]
rs1478899	1.00[ASN][1000 genomes]
rs17153343	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280804	1.00[ASN][1000 genomes]
rs2409782	0.93[ASN][1000 genomes]
rs4629826	1.00[ASN][1000 genomes]
rs55718444	1.00[ASN][1000 genomes]
rs56967170	0.92[EUR][1000 genomes]
rs57032696	1.00[ASN][1000 genomes]
rs58209053	0.92[EUR][1000 genomes]
rs59028919	0.92[EUR][1000 genomes]
rs7005030	0.93[ASN][1000 genomes]
rs7016396	1.00[ASN][1000 genomes]
rs7017022	1.00[ASN][1000 genomes]
rs717717	0.92[EUR][1000 genomes]
rs73537757	1.00[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

No data

Chromatin state (count:31 , 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	chr8:11349000-11350200	Enhancers	Dnd41	blood
6	chr8:11349000-11350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:11349000-11351600	Enhancers	Fetal Thymus	thymus
8	chr8:11349000-11351800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:11349000-11351800	Enhancers	Thymus	Thymus
10	chr8:11349200-11350400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:11349200-11350400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:11349200-11350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:11349400-11350000	Enhancers	Osteobl	bone
14	chr8:11349400-11350400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:11349400-11350400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:11349400-11350400	Enhancers	NH-A	brain
17	chr8:11349400-11350600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:11349600-11350000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:11349600-11350000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:11349600-11350000	Flanking Active TSS	NHDF-Ad	bronchial
21	chr8:11349600-11350200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:11349600-11354400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:11349800-11350200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:11349800-11350400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr8:11349800-11350600	Enhancers	Primary T cells from cord blood	blood
26	chr8:11349800-11350600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:11349800-11351800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr8:11349800-11351800	Flanking Active TSS	Primary B cells from peripheral blood	blood
29	chr8:11349800-11351800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:11349800-11352000	Flanking Active TSS	GM12878-XiMat	blood
31	chr8:11349800-11354000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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