Variant report

Variant	rs12543505
Chromosome Location	chr8:11663075-11663076
allele	C/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	POLR2A	chr8:11662416-11664436	HL-60	blood:	n/a	n/a
2	NR2F2	chr8:11662826-11663142	MCF-7	breast:	n/a	n/a
3	GATA2	chr8:11662597-11663213	HUVEC	blood vessel:	n/a	n/a
4	GATA3	chr8:11662676-11663235	MCF-7	breast:	n/a	n/a
5	NFIC	chr8:11662652-11663453	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr8:11662472-11663443	HepG2	liver:	n/a	n/a
7	TEAD4	chr8:11662335-11663439	K562	blood:	n/a	n/a
8	GATA3	chr8:11662657-11663194	SH-SY5Y	brain:	n/a	n/a
9	FOS	chr8:11662445-11663105	MCF10A-Er-Src	breast:	n/a	chr8:11662483-11662494
10	BACH1	chr8:11662812-11663108	K562	blood:	n/a	n/a
11	POLR2A	chr8:11662819-11663855	SK-N-MC	brain:	n/a	n/a
12	GATA3	chr8:11662520-11663255	SK-N-SH	brain:	n/a	n/a
13	EP300	chr8:11662766-11663079	SK-N-SH_RA	brain:	n/a	n/a
14	PML	chr8:11662621-11663380	K562	blood:	n/a	n/a
15	ZNF263	chr8:11662354-11663415	HEK293-T-REx	kidney:	n/a	n/a
16	RUNX3	chr8:11662860-11663701	GM12878	blood:	n/a	chr8:11663526-11663535 chr8:11663526-11663535
17	POLR2A	chr8:11662441-11664361	GM12891	blood:	n/a	n/a
18	POLR2A	chr8:11662400-11664393	SK-N-MC	brain:	n/a	n/a
19	RUNX3	chr8:11662862-11663831	GM12878	blood:	n/a	chr8:11663526-11663535 chr8:11663526-11663535
20	POLR2A	chr8:11659475-11672720	K562	blood:	n/a	n/a
21	GATA3	chr8:11662697-11663257	MCF-7	breast:	n/a	n/a
22	GATA2	chr8:11662604-11663089	SH-SY5Y	brain:	n/a	n/a
23	HEY1	chr8:11662517-11663791	HepG2	liver:	n/a	n/a
24	MYC	chr8:11663035-11663177	NB4	blood:	n/a	n/a
25	MYC	chr8:11662389-11663136	K562	blood:	n/a	chr8:11662564-11662574
26	MYC	chr8:11662541-11663483	MCF10A-Er-Src	breast:	n/a	chr8:11662564-11662574
27	POLR2A	chr8:11662642-11663150	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11662566..11665636-chr8:11705504..11707081,3	K562	blood:
2	chr8:11657053..11659855-chr8:11661482..11664070,3	K562	blood:
3	chr8:11662199..11664746-chr8:11796348..11798802,2	K562	blood:
4	chr8:11652965..11656305-chr8:11661939..11664556,3	K562	blood:
5	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
6	chr8:11662802..11665653-chr8:11685244..11688002,2	K562	blood:
7	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255046	TF binding region
FDFT1	TF binding region
ENSG00000255046	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000154328	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12056593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12542790	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12542839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12545407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17524874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17524888	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17553545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17553559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2280942	0.93[ASN][1000 genomes]
rs2280943	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised 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	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11659000-11663400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr8:11659200-11663200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:11659400-11663800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:11659600-11663200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:11659600-11663200	Active TSS	Fetal Brain Female	brain
7	chr8:11659600-11663400	Active TSS	Fetal Brain Male	brain
8	chr8:11659600-11663400	Active TSS	NHLF	lung
9	chr8:11659600-11663600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:11659600-11664200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:11659600-11664200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:11659800-11663600	Active TSS	GM12878-XiMat	blood
13	chr8:11659800-11664200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:11660400-11663400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr8:11660800-11664400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:11660800-11665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:11660800-11666000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:11661000-11663600	Weak transcription	Pancreas	Pancrea
20	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:11661200-11663600	Enhancers	Stomach Mucosa	stomach
22	chr8:11661200-11664400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:11661200-11665400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:11661200-11665400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr8:11661400-11664000	Enhancers	Adipose Nuclei	Adipose
26	chr8:11661400-11664200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
27	chr8:11661400-11664200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr8:11661400-11664800	Weak transcription	Right Ventricle	heart
29	chr8:11661400-11665400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:11661400-11665400	Weak transcription	Aorta	Aorta
31	chr8:11661600-11663800	Weak transcription	Fetal Heart	heart
32	chr8:11661600-11664200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:11661600-11664400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr8:11661600-11665200	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:11661600-11665600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:11661800-11663200	Active TSS	HepG2	liver
37	chr8:11661800-11663600	Weak transcription	Lung	lung
38	chr8:11661800-11664000	Weak transcription	Colon Smooth Muscle	Colon
39	chr8:11661800-11664000	Enhancers	Fetal Muscle Leg	muscle
40	chr8:11661800-11664600	Enhancers	Fetal Lung	lung
41	chr8:11661800-11665000	Enhancers	Brain Anterior Caudate	brain
42	chr8:11661800-11665000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr8:11661800-11665400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:11662000-11663200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:11662000-11663200	Enhancers	Primary hematopoietic stem cells	blood
46	chr8:11662000-11663400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:11662000-11663600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:11662000-11663600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:11662000-11663600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr8:11662000-11664000	Enhancers	Pancreatic Islets	Pancreatic Islet

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