Variant report

Variant	rs28664823
Chromosome Location	chr8:54436733-54436734
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	FOXA1	chr8:54436255-54436878	T-47D	breast:	n/a	n/a
2	EP300	chr8:54436232-54436792	T-47D	breast:	n/a	n/a
3	GATA3	chr8:54436301-54436876	T-47D	breast:	n/a	n/a
4	PRDM1	chr8:54436412-54436789	Hela-S3	cervix:	n/a	chr8:54436579-54436594
5	POLR2A	chr8:54436348-54437067	U87	brain:	n/a	n/a
6	POLR2A	chr8:54436101-54437305	U87	brain:	n/a	n/a
7	FOS	chr8:54436526-54436832	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr8:54436166-54436862	T-47D	breast:	n/a	n/a
9	FOSL2	chr8:54436453-54436765	HepG2	liver:	n/a	n/a
10	FOXA1	chr8:54436284-54436991	T-47D	breast:	n/a	n/a
11	FOSL2	chr8:54436480-54436814	HepG2	liver:	n/a	n/a
12	FOS	chr8:54436525-54436856	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr8:54436310-54436972	A549	lung:	n/a	n/a
14	TCF12	chr8:54436365-54437035	A549	lung:	n/a	n/a
15	FOS	chr8:54436440-54436857	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr8:54436348-54437149	U87	brain:	n/a	n/a
17	POLR2A	chr8:54436065-54437265	U87	brain:	n/a	n/a
18	FOS	chr8:54436525-54436857	MCF10A-Er-Src	breast:	n/a	n/a
19	NR3C1	chr8:54436496-54436886	A549	lung:	n/a	n/a
20	SP1	chr8:54436463-54437055	A549	lung:	n/a	n/a
21	GATA3	chr8:54436203-54437086	T-47D	breast:	n/a	n/a
22	NR3C1	chr8:54436268-54436825	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000237807	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10090582	0.87[AMR][1000 genomes]
rs10093741	0.84[AMR][1000 genomes]
rs10095837	1.00[ASN][1000 genomes]
rs11992458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13439440	0.97[ASN][1000 genomes]
rs16919245	0.81[ASN][1000 genomes]
rs2376143	1.00[ASN][1000 genomes]
rs28587342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28649694	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59216865	0.81[ASN][1000 genomes]
rs6473841	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54433400-54437000	Active TSS	Right Ventricle	heart
2	chr8:54433400-54437200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:54433600-54437000	Active TSS	Aorta	Aorta
4	chr8:54433800-54437200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr8:54433800-54437400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr8:54434000-54437000	Active TSS	Ovary	ovary
7	chr8:54434200-54437000	Flanking Active TSS	HMEC	breast
8	chr8:54434200-54437600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr8:54434400-54436800	Active TSS	Rectal Smooth Muscle	rectum
10	chr8:54434400-54436800	Active TSS	Right Atrium	heart
11	chr8:54434400-54437400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:54434600-54437000	Active TSS	NHLF	lung
13	chr8:54434600-54437400	Active TSS	Brain Hippocampus Middle	brain
14	chr8:54434800-54437000	Active TSS	Brain Anterior Caudate	brain
15	chr8:54434800-54437000	Active TSS	Colonic Mucosa	Colon
16	chr8:54435000-54437400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:54435600-54437000	Weak transcription	Gastric	stomach
18	chr8:54435800-54436800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:54435800-54437000	Active TSS	Brain Cingulate Gyrus	brain
20	chr8:54435800-54437000	Active TSS	Brain Substantia Nigra	brain
21	chr8:54435800-54437000	Enhancers	Fetal Kidney	kidney
22	chr8:54435800-54437200	Flanking Active TSS	NH-A	brain
23	chr8:54436000-54436800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:54436000-54436800	Flanking Active TSS	Dnd41	blood
25	chr8:54436000-54437200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:54436000-54437200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:54436000-54437200	Enhancers	Small Intestine	intestine
28	chr8:54436000-54437200	Flanking Active TSS	NHEK	skin
29	chr8:54436000-54437400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr8:54436000-54437400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr8:54436200-54436800	Active TSS	Brain Angular Gyrus	brain
32	chr8:54436200-54436800	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr8:54436200-54436800	Flanking Active TSS	HUVEC	blood vessel
34	chr8:54436200-54437000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:54436200-54437000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr8:54436200-54437200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:54436200-54437200	Enhancers	Pancreas	Pancrea
38	chr8:54436200-54437200	Active TSS	HSMM	muscle
39	chr8:54436200-54437600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:54436400-54436800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:54436400-54436800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:54436400-54436800	Active TSS	Brain Germinal Matrix	brain
43	chr8:54436400-54436800	Active TSS	Fetal Heart	heart
44	chr8:54436400-54436800	Active TSS	Fetal Lung	lung
45	chr8:54436400-54436800	Active TSS	Fetal Stomach	stomach
46	chr8:54436400-54436800	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr8:54436400-54436800	Active TSS	A549	lung
48	chr8:54436400-54436800	Active TSS	Hela-S3	cervix
49	chr8:54436400-54436800	Active TSS	HSMMtube	muscle
50	chr8:54436400-54436800	Active TSS	Osteobl	bone

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