Variant report

Variant	rs28827548
Chromosome Location	chr8:11656965-11656966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr8:11656690-11657063	K562	blood:	n/a	n/a
2	HEY1	chr8:11656610-11657094	K562	blood:	n/a	n/a
3	CEBPB	chr8:11656799-11656989	K562	blood:	n/a	n/a
4	ZMIZ1	chr8:11656634-11657000	K562	blood:	n/a	n/a
5	HEY1	chr8:11656716-11657113	HepG2	liver:	n/a	n/a
6	MAX	chr8:11656634-11657021	K562	blood:	n/a	n/a
7	TBL1XR1	chr8:11656831-11657012	K562	blood:	n/a	n/a
8	EP300	chr8:11656543-11657150	K562	blood:	n/a	n/a
9	NR2F2	chr8:11656456-11657010	K562	blood:	n/a	n/a
10	POLR2A	chr8:11656643-11657019	K562	blood:	n/a	n/a
11	POLR2A	chr8:11656767-11656988	K562	blood:	n/a	n/a
12	MAZ	chr8:11656593-11657086	K562	blood:	n/a	n/a
13	TEAD4	chr8:11656568-11657097	K562	blood:	n/a	n/a
14	GABPA	chr8:11656614-11656981	K562	blood:	n/a	n/a
15	RCOR1	chr8:11656490-11657047	K562	blood:	n/a	n/a
16	RCOR1	chr8:11656585-11656973	K562	blood:	n/a	n/a
17	TAL1	chr8:11656630-11657066	K562	blood:	n/a	n/a
18	ATF1	chr8:11656586-11657065	K562	blood:	n/a	n/a
19	ZNF384	chr8:11656843-11657011	K562	blood:	n/a	n/a
20	SIN3AK20	chr8:11656432-11657071	MCF-7	breast:	n/a	n/a
21	POLR2A	chr8:11656678-11657121	K562	blood:	n/a	n/a
22	GATA2	chr8:11656562-11657072	K562	blood:	n/a	n/a
23	NR2F2	chr8:11656406-11657163	K562	blood:	n/a	n/a
24	JUN	chr8:11656457-11657189	K562	blood:	n/a	n/a
25	TEAD4	chr8:11656483-11657160	K562	blood:	n/a	n/a
26	ZC3H11A	chr8:11656476-11657033	K562	blood:	n/a	n/a
27	STAT5A	chr8:11656671-11657038	K562	blood:	n/a	n/a
28	POLR2A	chr8:11656602-11657080	K562	blood:	n/a	n/a
29	CUX1	chr8:11656041-11657005	K562	blood:	n/a	n/a
30	BHLHE40	chr8:11656691-11657024	K562	blood:	n/a	n/a
31	TBL1XR1	chr8:11656488-11657057	K562	blood:	n/a	n/a
32	JUND	chr8:11656602-11657043	K562	blood:	n/a	n/a
33	ZNF217	chr8:11656551-11657044	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11653120..11657894-chr8:11659261..11661744,5	K562	blood:
2	chr8:11652587..11657894-chr8:11658127..11661459,7	K562	blood:

No data

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

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10089013	1.00[AMR][1000 genomes]
rs10093429	1.00[AMR][1000 genomes]
rs13361	1.00[AMR][1000 genomes]
rs2446	1.00[AMR][1000 genomes]
rs28380721	1.00[AMR][1000 genomes]
rs28391704	1.00[AMR][1000 genomes]
rs28481870	1.00[AMR][1000 genomes]
rs28615101	1.00[AMR][1000 genomes]
rs3189016	1.00[AMR][1000 genomes]
rs55774923	1.00[AMR][1000 genomes]
rs55865186	1.00[AMR][1000 genomes]
rs57575026	1.00[AMR][1000 genomes]
rs58057768	1.00[AMR][1000 genomes]
rs58922796	1.00[AMR][1000 genomes]
rs59270740	1.00[AMR][1000 genomes]
rs60079257	1.00[AMR][1000 genomes]
rs60409649	1.00[AMR][1000 genomes]
rs60729363	1.00[AMR][1000 genomes]
rs61394300	1.00[AMR][1000 genomes]
rs73543167	1.00[AMR][1000 genomes]
rs73663010	1.00[AMR][1000 genomes]
rs73663017	1.00[AMR][1000 genomes]
rs73663018	1.00[AMR][1000 genomes]
rs73663020	1.00[AMR][1000 genomes]
rs73663033	1.00[AMR][1000 genomes]
rs73663036	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	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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11636800-11659400	Weak transcription	Thymus	Thymus
2	chr8:11640800-11658600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:11641000-11658000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:11641000-11659600	Weak transcription	Right Atrium	heart
5	chr8:11641200-11658400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:11641200-11659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:11643600-11658200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:11643800-11659400	Weak transcription	Brain Angular Gyrus	brain
9	chr8:11643800-11659600	Weak transcription	Aorta	Aorta
10	chr8:11644200-11658400	Weak transcription	Brain Germinal Matrix	brain
11	chr8:11644400-11659400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:11644600-11659400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:11644800-11659000	Weak transcription	Primary T cells from cord blood	blood
14	chr8:11645000-11658600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:11645600-11658200	Weak transcription	Primary B cells from cord blood	blood
16	chr8:11647400-11659400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:11647600-11659400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:11647600-11659400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:11647800-11657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:11648000-11657800	Weak transcription	NHEK	skin
21	chr8:11648000-11658600	Weak transcription	Fetal Brain Female	brain
22	chr8:11652200-11658400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr8:11653800-11657000	Weak transcription	Fetal Intestine Small	intestine
24	chr8:11654000-11658400	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:11654200-11659400	Weak transcription	Fetal Lung	lung
26	chr8:11654400-11657000	Weak transcription	Fetal Intestine Large	intestine
27	chr8:11654400-11657400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:11654400-11658600	Weak transcription	NHLF	lung
29	chr8:11654400-11659400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:11654600-11658600	Weak transcription	Adipose Nuclei	Adipose
31	chr8:11654600-11659200	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:11654600-11659200	Weak transcription	HSMMtube	muscle
33	chr8:11654800-11657000	Weak transcription	Placenta	Placenta
34	chr8:11654800-11657200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr8:11654800-11657800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:11654800-11658000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:11654800-11658200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:11654800-11658400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:11654800-11658400	Enhancers	HepG2	liver
40	chr8:11654800-11658600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:11655000-11657800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:11655000-11658200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:11655000-11658400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:11655000-11658600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:11655000-11658600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:11655000-11658600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:11655000-11659200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:11655000-11659400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:11655000-11659400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:11655000-11659400	Weak transcription	Osteobl	bone

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