Variant report

Variant	rs1469268
Chromosome Location	chr8:6567046-6567047
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	chr8:6565085-6567738	GM12878	blood:	n/a	chr8:6565688-6565700 chr8:6565208-6565215
2	MYC	chr8:6565655-6567549	MCF10A-Er-Src	breast:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
3	STAT5A	chr8:6566640-6567648	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:6563393-6568475	GM18505	blood:	n/a	n/a
5	GATA1	chr8:6565217-6567957	PBDE	blood:	n/a	n/a
6	MEF2A	chr8:6567045-6567528	K562	blood:	n/a	chr8:6567288-6567309 chr8:6567288-6567309 chr8:6567293-6567302 chr8:6567290-6567305 chr8:6567289-6567304 chr8:6567289-6567305
7	ATF2	chr8:6564823-6567769	GM12878	blood:	n/a	n/a
8	PML	chr8:6564863-6568603	GM12878	blood:	n/a	n/a
9	IRF1	chr8:6565125-6567726	K562	blood:	n/a	chr8:6566643-6566657 chr8:6567173-6567187 chr8:6566106-6566115 chr8:6565798-6565807 chr8:6567172-6567184 chr8:6566856-6566868
10	POLR2A	chr8:6565160-6567838	GM19193	blood:	n/a	n/a
11	FOS	chr8:6566870-6567063	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:6565179-6567482	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:6567029-6567054	HepG2	liver:	n/a	n/a
14	POLR2A	chr8:6564880-6568149	GM12878	blood:	n/a	n/a
15	POLR2A	chr8:6565042-6567643	GM12892	blood:	n/a	n/a
16	IRF1	chr8:6564978-6567455	K562	blood:	n/a	chr8:6566643-6566657 chr8:6567173-6567187 chr8:6566106-6566115 chr8:6565798-6565807 chr8:6567172-6567184 chr8:6566856-6566868
17	POLR2A	chr8:6565297-6567232	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr8:6564875-6568226	GM12892	blood:	n/a	n/a
19	MTA3	chr8:6566084-6568380	GM12878	blood:	n/a	n/a
20	EP300	chr8:6566485-6567750	K562	blood:	n/a	chr8:6567235-6567249 chr8:6567420-6567434
21	POLR2A	chr8:6565333-6567187	MCF10A-Er-Src	breast:	n/a	n/a
22	BCLAF1	chr8:6565082-6568240	GM12878	blood:	n/a	chr8:6565887-6565900 chr8:6566647-6566660 chr8:6566634-6566643 chr8:6565982-6565995
23	MAX	chr8:6565112-6567127	A549	lung:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
24	MEF2A	chr8:6566992-6567537	GM12878	blood:	n/a	chr8:6567288-6567309 chr8:6567288-6567309 chr8:6567293-6567302 chr8:6567290-6567305 chr8:6567289-6567304 chr8:6567289-6567305
25	RELA	chr8:6565366-6567368	GM18951	blood:	n/a	n/a
26	MAX	chr8:6565050-6567093	ECC-1	luminal epithelium:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
27	MXI1	chr8:6564937-6567140	IMR90	lung:	n/a	n/a
28	GATA2	chr8:6565393-6567050	SH-SY5Y	brain:	n/a	n/a
29	KAP1	chr8:6566819-6567421	K562	blood:	n/a	n/a
30	POLR2A	chr8:6563528-6568801	GM12878	blood:	n/a	n/a
31	TBL1XR1	chr8:6565538-6567782	GM12878	blood:	n/a	n/a
32	RELA	chr8:6565068-6567454	GM19099	blood:	n/a	n/a
33	POLR2A	chr8:6567046-6568035	GM12891	blood:	n/a	n/a
34	GATA3	chr8:6566813-6567312	SH-SY5Y	brain:	n/a	n/a
35	CEBPB	chr8:6566384-6567122	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:6565092-6567067	SK-N-MC	brain:	n/a	n/a
37	MYC	chr8:6565404-6567677	A549	lung:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6567589-6567598 chr8:6566528-6566537 chr8:6566527-6566538
38	FOXM1	chr8:6565059-6567537	GM12878	blood:	n/a	n/a
39	CHD1	chr8:6565011-6568398	GM12878	blood:	n/a	chr8:6566145-6566155
40	NFIC	chr8:6566060-6567575	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:6565110-6567799	PBDE	blood:	n/a	n/a
42	MYC	chr8:6565076-6567560	K562	blood:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
43	BHLHE40	chr8:6565488-6567325	K562	blood:	n/a	chr8:6566447-6566463 chr8:6566528-6566537 chr8:6566528-6566537 chr8:6565732-6565748
44	BHLHE40	chr8:6565147-6567748	GM12878	blood:	n/a	chr8:6566447-6566463 chr8:6566528-6566537 chr8:6566528-6566537 chr8:6565732-6565748
45	NFATC1	chr8:6566060-6568043	GM12878	blood:	n/a	n/a
46	POLR2A	chr8:6565183-6567699	GM18951	blood:	n/a	n/a
47	RELA	chr8:6565197-6567459	GM18505	blood:	n/a	n/a
48	ATF2	chr8:6567005-6567622	GM12878	blood:	n/a	n/a
49	MXI1	chr8:6564946-6567978	GM12878	blood:	n/a	n/a
50	TBP	chr8:6565105-6567412	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:6262444..6265412-chr8:6565205..6567179,2	K562	blood:
2	chr8:6285374..6287527-chr8:6566715..6569546,2	K562	blood:
3	chr8:6263912..6265972-chr8:6565205..6568456,4	K562	blood:
4	chr8:6565037..6567895-chr8:6594661..6596413,3	K562	blood:
5	chr7:100033528..100034221-chr8:6566670..6567368,2	Hela-S3	cervix:
6	chr8:6564149..6568070-chr8:6601682..6607895,12	K562	blood:
7	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
8	chr8:6566710..6569259-chr8:6614504..6616089,2	K562	blood:
9	chr8:6566568..6569324-chr8:6619809..6622501,2	K562	blood:
10	chr8:6564149..6568457-chr8:6601682..6605924,8	K562	blood:
11	chr11:62607824..62609645-chr8:6566131..6568713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249898	TF binding region
ENSG00000240211	Chromatin interaction
ENSG00000246089	Chromatin interaction
ENSG00000266038	Chromatin interaction
ENSG00000147316	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1425783	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1542849	0.84[EUR][1000 genomes]
rs1559743	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1559745	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17573820	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408445	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2911973	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2911981	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2911984	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2912043	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2928620	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2928628	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2980687	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2980691	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs714508	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6564000-6567400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:6564000-6567600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:6564000-6568400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:6564400-6567200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:6564400-6567800	Active TSS	HepG2	liver
6	chr8:6564400-6568000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:6564600-6567200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr8:6564600-6567200	Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr8:6564600-6567200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr8:6564600-6567400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr8:6564600-6567400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:6564600-6567600	Active TSS	Fetal Intestine Small	intestine
13	chr8:6564600-6567600	Active TSS	A549	lung
14	chr8:6564600-6567800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr8:6564600-6567800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:6564600-6568200	Active TSS	HMEC	breast
17	chr8:6564600-6568800	Active TSS	GM12878-XiMat	blood
18	chr8:6564800-6567200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:6564800-6567200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:6564800-6567200	Active TSS	Fetal Intestine Large	intestine
21	chr8:6564800-6567200	Active TSS	NHDF-Ad	bronchial
22	chr8:6564800-6567200	Active TSS	NHEK	skin
23	chr8:6564800-6567400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:6564800-6567800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:6564800-6567800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr8:6564800-6568000	Active TSS	Thymus	Thymus
27	chr8:6564800-6568200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:6564800-6568600	Active TSS	K562	blood
29	chr8:6565000-6567200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:6565000-6567200	Active TSS	Fetal Thymus	thymus
31	chr8:6565000-6567400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr8:6565000-6567400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:6565000-6567400	Active TSS	Fetal Kidney	kidney
34	chr8:6565000-6567600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:6565000-6567600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:6565000-6567600	Active TSS	HSMM	muscle
37	chr8:6565000-6567600	Active TSS	HSMMtube	muscle
38	chr8:6565000-6568000	Active TSS	Fetal Muscle Leg	muscle
39	chr8:6565000-6568000	Active TSS	Placenta	Placenta
40	chr8:6565200-6567200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:6565200-6567200	Active TSS	Brain Angular Gyrus	brain
42	chr8:6565200-6567200	Active TSS	Brain Anterior Caudate	brain
43	chr8:6565200-6567200	Active TSS	Brain Hippocampus Middle	brain
44	chr8:6565200-6567200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr8:6565200-6567200	Active TSS	Psoas Muscle	Psoas
46	chr8:6565200-6567200	Active TSS	Stomach Mucosa	stomach
47	chr8:6565200-6567400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:6565200-6567400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:6565200-6567400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:6565200-6567400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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