Variant report

Variant	rs2244909
Chromosome Location	chr8:11404070-11404071
allele	G/T
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	NFIC	chr8:11402849-11404250	GM12878	blood:	n/a	n/a
2	FOXM1	chr8:11402937-11404249	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:11403251-11404162	GM12891	blood:	n/a	n/a
4	ZEB1	chr8:11403903-11404201	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:11403147-11408714	GM12878	blood:	n/a	n/a
6	RELA	chr8:11403052-11404101	GM12878	blood:	n/a	chr8:11403286-11403295 chr8:11403286-11403295
7	IRF4	chr8:11403038-11404264	GM12878	blood:	n/a	n/a
8	PML	chr8:11402844-11404876	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr8:11403048-11404188	GM12878	blood:	n/a	n/a
10	NFATC1	chr8:11403009-11404256	GM12878	blood:	n/a	n/a
11	RELA	chr8:11403090-11404073	GM12892	blood:	n/a	chr8:11403286-11403295 chr8:11403286-11403295
12	IRF4	chr8:11403082-11404244	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:11403091-11404179	GM12892	blood:	n/a	n/a
14	RELA	chr8:11403098-11404085	GM19099	blood:	n/a	chr8:11403286-11403295 chr8:11403286-11403295
15	EP300	chr8:11403065-11404195	GM12878	blood:	n/a	chr8:11403421-11403437 chr8:11403855-11403869
16	MAX	chr8:11403220-11404161	GM12878	blood:	n/a	chr8:11403364-11403374
17	POU2F2	chr8:11403191-11404199	GM12891	blood:	n/a	chr8:11403358-11403370
18	EBF1	chr8:11403144-11404260	GM12878	blood:	n/a	chr8:11403459-11403468
19	EGR1	chr8:11403898-11404140	GM12878	blood:	n/a	chr8:11404055-11404068 chr8:11404054-11404068 chr8:11404052-11404066 chr8:11404056-11404065 chr8:11404056-11404067
20	BCL11A	chr8:11403784-11404237	GM12878	blood:	n/a	n/a
21	RUNX3	chr8:11402864-11404319	GM12878	blood:	n/a	n/a
22	SP1	chr8:11403086-11404272	GM12878	blood:	n/a	chr8:11403506-11403516 chr8:11403363-11403375 chr8:11403364-11403373 chr8:11403506-11403516 chr8:11403360-11403373 chr8:11403363-11403375 chr8:11404059-11404069 chr8:11403360-11403374 chr8:11403505-11403517
23	POLR2A	chr8:11403039-11407221	GM18505	blood:	n/a	n/a
24	RELA	chr8:11403130-11404119	GM19193	blood:	n/a	chr8:11403286-11403295 chr8:11403286-11403295
25	EP300	chr8:11403076-11404099	GM12878	blood:	n/a	chr8:11403421-11403437 chr8:11403855-11403869
26	POLR2A	chr8:11403079-11408348	GM12878	blood:	n/a	n/a
27	CEBPB	chr8:11403000-11404147	GM12878	blood:	n/a	n/a
28	ATF2	chr8:11402957-11404256	GM12878	blood:	n/a	n/a
29	EBF1	chr8:11403108-11404696	GM12878	blood:	n/a	chr8:11404468-11404478 chr8:11403459-11403468
30	ZNF384	chr8:11403855-11404228	GM12878	blood:	n/a	n/a
31	RELA	chr8:11403062-11404085	GM12891	blood:	n/a	chr8:11403286-11403295 chr8:11403286-11403295
32	STAT5A	chr8:11403062-11404256	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:11403229-11404844	GM12878	blood:	n/a	n/a
34	EGR1	chr8:11403910-11404125	GM12878	blood:	n/a	chr8:11404055-11404068 chr8:11404054-11404068 chr8:11404052-11404066 chr8:11404056-11404065 chr8:11404056-11404067
35	POU2F2	chr8:11403065-11404261	GM12878	blood:	n/a	chr8:11403358-11403370
36	ELF1	chr8:11403233-11404728	GM12878	blood:	n/a	chr8:11403361-11403373
37	BCL3	chr8:11403839-11404194	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:11403870-11404177	GM12878	blood:	n/a	n/a
39	CHD2	chr8:11403149-11404092	GM12878	blood:	n/a	n/a
40	ATF2	chr8:11402856-11404232	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:11403322-11404427	GM12878	blood:	n/a	n/a
42	BATF	chr8:11403782-11404243	GM12878	blood:	n/a	n/a
43	STAT5A	chr8:11403114-11404203	GM12878	blood:	n/a	n/a
44	MEF2C	chr8:11403052-11404262	GM12878	blood:	n/a	n/a
45	BCLAF1	chr8:11403056-11404256	GM12878	blood:	n/a	chr8:11403287-11403296
46	PAX5	chr8:11402746-11404262	GM12878	blood:	n/a	chr8:11403717-11403726
47	YY1	chr8:11403858-11404156	GM12878	blood:	n/a	n/a
48	PML	chr8:11403818-11404140	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:11403003-11404951	GM12892	blood:	n/a	n/a
50	TCF12	chr8:11403852-11404140	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
BLK	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1478902	1.00[AMR][1000 genomes]
rs1600251	1.00[AMR][1000 genomes]
rs17153216	1.00[AMR][1000 genomes]
rs2169891	1.00[AMR][1000 genomes]
rs2252382	1.00[AMR][1000 genomes]
rs2252386	1.00[AMR][1000 genomes]
rs2252407	1.00[AMR][1000 genomes]
rs2252517	1.00[AMR][1000 genomes]
rs2255104	1.00[AMR][1000 genomes]
rs2264871	1.00[AMR][1000 genomes]
rs2264873	1.00[AMR][1000 genomes]
rs2264908	1.00[AMR][1000 genomes]
rs2618438	1.00[AMR][1000 genomes]
rs2618442	1.00[AMR][1000 genomes]
rs2618447	1.00[AMR][1000 genomes]
rs2618462	1.00[AMR][1000 genomes]
rs2618468	1.00[AMR][1000 genomes]
rs2736333	1.00[AMR][1000 genomes]
rs2736334	1.00[AMR][1000 genomes]
rs4841555	1.00[AMR][1000 genomes]
rs57139007	1.00[AMR][1000 genomes]
rs58750942	1.00[AMR][1000 genomes]
rs61142806	1.00[AMR][1000 genomes]
rs899369	1.00[AMR][1000 genomes]
rs931085	1.00[AMR][1000 genomes]
rs931086	1.00[AMR][1000 genomes]
rs936547	1.00[AMR][1000 genomes]
rs969985	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1026837	chr8:11394466-11464127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1018959	chr8:11395232-11455756	Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv890358	chr8:11396856-11448738	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv1033629	chr8:11401789-11466745	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11400400-11404800	Weak transcription	Spleen	Spleen
3	chr8:11401200-11406400	Weak transcription	HUVEC	blood vessel
4	chr8:11403200-11404800	Enhancers	HSMM	muscle
5	chr8:11403600-11404600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:11403600-11405200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:11404000-11404200	Enhancers	GM12878-XiMat	blood
8	chr8:11404000-11404400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:11404000-11404800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
10	chr8:11404000-11405400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:11404000-11408400	Weak transcription	Fetal Thymus	thymus
12	chr8:11404000-11411000	Weak transcription	Muscle Satellite Cultured Cells	--

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