Variant report

Variant	rs62521826
Chromosome Location	chr8:124186668-124186669
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	NR3C1	chr8:124186645-124187198	A549	lung:	n/a	chr8:124186739-124186752 chr8:124186779-124186792
2	MAX	chr8:124186439-124187112	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr8:124186482-124186881	ECC-1	luminal epithelium:	n/a	n/a
4	NR2F2	chr8:124186382-124187087	MCF-7	breast:	n/a	n/a
5	ESR1	chr8:124186439-124186918	ECC-1	luminal epithelium:	n/a	chr8:124186488-124186505
6	POLR2A	chr8:124186630-124187212	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr8:124186396-124186972	ECC-1	luminal epithelium:	n/a	n/a
8	NR3C1	chr8:124186665-124186929	A549	lung:	n/a	chr8:124186739-124186752 chr8:124186779-124186792
9	MAX	chr8:124186652-124187174	Hela-S3	cervix:	n/a	n/a
10	NR3C1	chr8:124186509-124187238	A549	lung:	n/a	chr8:124186739-124186752 chr8:124186779-124186792
11	ESR1	chr8:124186438-124186890	ECC-1	luminal epithelium:	n/a	chr8:124186488-124186505
12	SPI1	chr8:124186566-124186891	HL-60	blood:	n/a	chr8:124186727-124186740 chr8:124186729-124186738
13	ELF1	chr8:124186467-124187197	MCF-7	breast:	n/a	n/a
14	SPI1	chr8:124186609-124186786	K562	blood:	n/a	chr8:124186727-124186740 chr8:124186729-124186738
15	SMARCC1	chr8:124186514-124187243	Hela-S3	cervix:	n/a	n/a
16	TCF7L2	chr8:124186470-124187200	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr8:124186641-124187060	Hela-S3	cervix:	n/a	n/a
18	FOXA1	chr8:124186459-124186779	ECC-1	luminal epithelium:	n/a	n/a
19	FOXA1	chr8:124186362-124186805	ECC-1	luminal epithelium:	n/a	n/a
20	SMARCB1	chr8:124186460-124187175	Hela-S3	cervix:	n/a	n/a
21	TCF12	chr8:124186390-124187001	ECC-1	luminal epithelium:	n/a	n/a
22	FOS	chr8:124186646-124187218	MCF10A-Er-Src	breast:	n/a	n/a
23	NFIC	chr8:124186429-124186977	ECC-1	luminal epithelium:	n/a	n/a
24	TEAD4	chr8:124186378-124186943	ECC-1	luminal epithelium:	n/a	n/a
25	ESR1	chr8:124186348-124186806	ECC-1	luminal epithelium:	n/a	chr8:124186488-124186505
26	ESR1	chr8:124186452-124186805	ECC-1	luminal epithelium:	n/a	chr8:124186488-124186505
27	ESR1	chr8:124186427-124186954	ECC-1	luminal epithelium:	n/a	chr8:124186488-124186505
28	NFIC	chr8:124186404-124187042	ECC-1	luminal epithelium:	n/a	n/a
29	ESR1	chr8:124186436-124186805	ECC-1	luminal epithelium:	n/a	chr8:124186488-124186505
30	EP300	chr8:124186376-124186939	ECC-1	luminal epithelium:	n/a	n/a
31	STAT3	chr8:124186609-124187131	MCF10A-Er-Src	breast:	n/a	chr8:124186996-124187008 chr8:124186968-124186979 chr8:124186967-124186981
32	POLR2A	chr8:124186585-124187203	Hela-S3	cervix:	n/a	n/a
33	SPI1	chr8:124186521-124186955	HL-60	blood:	n/a	chr8:124186727-124186740 chr8:124186729-124186738

No.	Distal block	Cell Line	Cell type
1	chr8:124184930..124186918-chr8:124191139..124192862,2	K562	blood:
2	chr8:124183395..124185998-chr8:124186648..124190984,3	K562	blood:
3	chr8:124186237..124188442-chr8:124251831..124254450,2	MCF-7	breast:
4	chr8:123793070..123795437-chr8:124184776..124186817,2	MCF-7	breast:
5	chr8:124185720..124188524-chr8:124283602..124285793,2	K562	blood:

Variant related genes	Relation type
FAM83A	TF binding region
ENSG00000189376	Chromatin interaction
ENSG00000178764	Chromatin interaction
ENSG00000221461	Chromatin interaction
ENSG00000147689	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10096350	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111810	0.81[EUR][1000 genomes]
rs10505430	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11988157	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11992152	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13259806	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260626	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260775	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13260798	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261021	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261066	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13261100	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16898076	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16898084	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16898086	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16898088	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16898095	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16898097	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17323510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28513831	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28528232	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28537152	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28542077	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28624331	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28670850	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28694222	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4282551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4377946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57165742	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57322232	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57902736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58116120	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58177772	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58189203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58741168	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59428574	0.81[EUR][1000 genomes]
rs59601467	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59834873	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60362869	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60827294	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61326230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61422480	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521806	0.80[EUR][1000 genomes]
rs62521807	0.80[EUR][1000 genomes]
rs62521825	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62521841	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6983795	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6988636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7002021	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73339658	0.86[EUR][1000 genomes]
rs73339686	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9987352	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9987357	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124178800-124194000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:124181400-124188600	Enhancers	K562	blood
3	chr8:124184600-124188400	Enhancers	Hela-S3	cervix
4	chr8:124185200-124187200	Enhancers	A549	lung
5	chr8:124186000-124186800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:124186000-124186800	Enhancers	Esophagus	oesophagus
7	chr8:124186000-124188000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:124186400-124186800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:124186400-124186800	Enhancers	Brain Germinal Matrix	brain
10	chr8:124186400-124187200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:124186400-124187200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:124186400-124187200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:124186400-124187200	Enhancers	HSMM	muscle
14	chr8:124186400-124187400	Enhancers	HMEC	breast
15	chr8:124186400-124187400	Enhancers	NHEK	skin
16	chr8:124186600-124187000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:124186600-124187000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:124186600-124187000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:124186600-124187000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:124186600-124187000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:124186600-124187000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:124186600-124187200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:124186600-124187200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:124186600-124187200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:124186600-124187200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:124186600-124187200	Enhancers	Osteobl	bone

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