Variant report

Variant	rs28636779
Chromosome Location	chr8:54427148-54427149
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	GATA3	chr8:54426355-54427512	A549	lung:	n/a	chr8:54426592-54426601 chr8:54426589-54426605 chr8:54426591-54426603
2	FOXA2	chr8:54426609-54427291	A549	lung:	n/a	n/a
3	TCF12	chr8:54426411-54427416	A549	lung:	n/a	n/a
4	SP1	chr8:54426539-54427321	A549	lung:	n/a	n/a
5	NR3C1	chr8:54426494-54427405	A549	lung:	n/a	chr8:54427081-54427096
6	E2F6	chr8:54426695-54427511	A549	lung:	n/a	n/a
7	MYC	chr8:54426561-54427163	MCF10A-Er-Src	breast:	n/a	chr8:54426660-54426669
8	CEBPB	chr8:54426876-54427197	A549	lung:	n/a	n/a
9	MAX	chr8:54426928-54427269	ECC-1	luminal epithelium:	n/a	n/a
10	GABPA	chr8:54426711-54427234	A549	lung:	n/a	n/a
11	FOS	chr8:54426566-54427161	MCF10A-Er-Src	breast:	n/a	chr8:54426936-54426943 chr8:54426659-54426670 chr8:54426661-54426668 chr8:54426936-54426944 chr8:54426661-54426669 chr8:54426661-54426670 chr8:54426660-54426669
12	NR3C1	chr8:54426659-54427336	A549	lung:	n/a	chr8:54427081-54427096
13	TCF12	chr8:54426527-54427189	A549	lung:	n/a	n/a
14	JUND	chr8:54426716-54427187	A549	lung:	n/a	chr8:54426936-54426943 chr8:54426936-54426944
15	MAX	chr8:54426888-54427204	A549	lung:	n/a	n/a
16	FOS	chr8:54426514-54427185	MCF10A-Er-Src	breast:	n/a	chr8:54426936-54426943 chr8:54426659-54426670 chr8:54426661-54426668 chr8:54426936-54426944 chr8:54426661-54426669 chr8:54426661-54426670 chr8:54426660-54426669
17	TEAD4	chr8:54426493-54427306	A549	lung:	n/a	n/a
18	EGR1	chr8:54427059-54427280	K562	blood:	n/a	n/a
19	MAX	chr8:54426429-54427584	A549	lung:	n/a	chr8:54426660-54426669
20	POLR2A	chr8:54426449-54427224	U87	brain:	n/a	n/a
21	NR3C1	chr8:54426790-54427274	A549	lung:	n/a	chr8:54427081-54427096
22	EP300	chr8:54426517-54427201	A549	lung:	n/a	chr8:54426660-54426669 chr8:54426661-54426670
23	MAX	chr8:54426519-54427383	A549	lung:	n/a	chr8:54426660-54426669
24	FOSL2	chr8:54426372-54427300	A549	lung:	n/a	chr8:54426936-54426943 chr8:54426661-54426668 chr8:54426936-54426944 chr8:54426661-54426669 chr8:54426661-54426670 chr8:54426660-54426669
25	SP1	chr8:54426359-54427297	A549	lung:	n/a	n/a
26	STAT3	chr8:54426724-54427183	MCF10A-Er-Src	breast:	n/a	chr8:54426992-54427003 chr8:54427013-54427021 chr8:54427028-54427039
27	FOXA2	chr8:54426695-54427216	A549	lung:	n/a	n/a
28	FOS	chr8:54426705-54427158	MCF10A-Er-Src	breast:	n/a	chr8:54426936-54426943 chr8:54426936-54426944
29	POLR2A	chr8:54427088-54427274	Gliobla	brain:	n/a	n/a
30	EP300	chr8:54426473-54427256	A549	lung:	n/a	chr8:54426660-54426669 chr8:54426661-54426670
31	POLR2A	chr8:54426373-54427411	U87	brain:	n/a	n/a
32	FOSL2	chr8:54426521-54427164	A549	lung:	n/a	chr8:54426936-54426943 chr8:54426661-54426668 chr8:54426936-54426944 chr8:54426661-54426669 chr8:54426661-54426670 chr8:54426660-54426669
33	USF1	chr8:54426691-54427273	A549	lung:	n/a	n/a
34	POLR2A	chr8:54427057-54427153	ProgFib	skin:	n/a	n/a
35	STAT3	chr8:54426748-54427208	MCF10A-Er-Src	breast:	n/a	chr8:54426992-54427003 chr8:54427013-54427021 chr8:54427028-54427039
36	NR3C1	chr8:54426821-54427193	A549	lung:	n/a	chr8:54427081-54427096
37	STAT3	chr8:54426811-54427163	MCF10A-Er-Src	breast:	n/a	chr8:54426992-54427003 chr8:54427013-54427021 chr8:54427028-54427039
38	POLR2A	chr8:54426379-54427411	U87	brain:	n/a	n/a
39	FOS	chr8:54426555-54427158	MCF10A-Er-Src	breast:	n/a	chr8:54426936-54426943 chr8:54426659-54426670 chr8:54426661-54426668 chr8:54426936-54426944 chr8:54426661-54426669 chr8:54426661-54426670 chr8:54426660-54426669

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1H-1	chr8:54426635-54429514	NONHSAT126594
2	lnc-ATP6V1H-1	chr8:54426636-54427601	NONHSAT126595

Variant related genes	Relation type
ENSG00000254204	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11993719	0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1477961	0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16919245	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28507351	0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59216865	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61286708	0.82[ASN][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54411800-54433400	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:54419200-54436200	Weak transcription	Pancreas	Pancrea
3	chr8:54421200-54427400	Enhancers	Fetal Heart	heart
4	chr8:54421800-54434800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:54422800-54434800	Weak transcription	Esophagus	oesophagus
6	chr8:54424000-54428400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:54426400-54427400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:54426400-54427400	Flanking Active TSS	A549	lung
9	chr8:54426400-54427600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr8:54426400-54433000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:54426400-54434600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:54426600-54427200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:54426600-54427200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:54426600-54427200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:54426600-54427200	Enhancers	NHEK	skin
16	chr8:54426600-54427400	Flanking Active TSS	NH-A	brain
17	chr8:54426600-54427600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:54426600-54427600	Enhancers	Right Ventricle	heart
19	chr8:54426600-54427600	Flanking Active TSS	Osteobl	bone
20	chr8:54426600-54428000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:54426600-54429000	Enhancers	HSMMtube	muscle
22	chr8:54426600-54429200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr8:54426600-54430000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr8:54426800-54427200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:54426800-54427200	Enhancers	NHDF-Ad	bronchial
26	chr8:54426800-54427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:54426800-54427600	Enhancers	HMEC	breast
28	chr8:54426800-54427800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:54426800-54427800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:54426800-54428800	Genic enhancers	Left Ventricle	heart
31	chr8:54426800-54429400	Strong transcription	Aorta	Aorta
32	chr8:54427000-54427400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:54427000-54427400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:54427000-54427400	Enhancers	NHLF	lung
35	chr8:54427000-54427600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:54427000-54427600	Flanking Active TSS	HSMM	muscle
37	chr8:54427000-54428200	Strong transcription	Fetal Stomach	stomach
38	chr8:54427000-54429600	Strong transcription	Ovary	ovary

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