Variant report

Variant	rs72669129
Chromosome Location	chr8:110547482-110547483
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	FOS	chr8:110547188-110547606	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA1	chr8:110546842-110547694	PBDE	blood:	n/a	n/a
3	FOS	chr8:110547198-110547625	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr8:110547231-110547618	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr8:110547226-110547605	MCF10A-Er-Src	breast:	n/a	n/a
6	TEAD4	chr8:110547234-110547902	ECC-1	luminal epithelium:	n/a	n/a
7	STAT3	chr8:110547398-110547617	MCF10A-Er-Src	breast:	n/a	chr8:110547442-110547450
8	MYC	chr8:110547190-110547756	MCF10A-Er-Src	breast:	n/a	chr8:110547400-110547409
9	STAT3	chr8:110547383-110547568	MCF10A-Er-Src	breast:	n/a	chr8:110547442-110547450
10	NFIC	chr8:110547200-110547648	ECC-1	luminal epithelium:	n/a	n/a
11	STAT3	chr8:110547328-110547569	MCF10A-Er-Src	breast:	n/a	chr8:110547442-110547450
12	ZNF384	chr8:110547272-110547576	K562	blood:	n/a	n/a
13	FOS	chr8:110547260-110547627	MCF10A-Er-Src	breast:	n/a	n/a
14	NFIC	chr8:110547150-110547759	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110546124..110548249-chr8:110656124..110658861,2	MCF-7	breast:
2	chr8:110346524..110348211-chr8:110547153..110549713,2	K562	blood:
3	chr8:110544819..110549449-chr8:110549976..110554355,13	K562	blood:

Variant related genes	Relation type
EBAG9	TF binding region
ENSG00000120526	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000147642	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000248050	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10093885	0.83[EUR][1000 genomes]
rs10100944	0.81[EUR][1000 genomes]
rs11778756	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11784792	0.84[EUR][1000 genomes]
rs11785973	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13438836	0.85[EUR][1000 genomes]
rs17368044	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17375750	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17445342	0.82[EUR][1000 genomes]
rs17446406	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1892761	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947562	0.85[AFR][1000 genomes]
rs28491535	0.82[EUR][1000 genomes]
rs55800074	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55932317	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55959787	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56109503	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56379526	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59237049	0.83[EUR][1000 genomes]
rs61741363	0.80[AFR][1000 genomes]
rs6469255	0.81[EUR][1000 genomes]
rs6995033	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008687	0.81[EUR][1000 genomes]
rs72669109	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669111	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669122	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669124	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669127	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669131	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72684719	0.81[EUR][1000 genomes]
rs72684799	0.85[EUR][1000 genomes]
rs72687010	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72687015	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7816624	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7817639	0.85[EUR][1000 genomes]
rs7820734	0.85[EUR][1000 genomes]
rs7836433	0.80[EUR][1000 genomes]
rs7842842	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9656791	0.82[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	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110543200-110550600	Weak transcription	GM12878-XiMat	blood
2	chr8:110543600-110551200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:110544400-110550800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:110545600-110551200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:110546600-110549600	Enhancers	Fetal Brain Male	brain
6	chr8:110546800-110548400	Enhancers	Fetal Brain Female	brain
7	chr8:110546800-110548600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:110546800-110549800	Enhancers	Fetal Lung	lung
9	chr8:110547200-110547600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:110547200-110547600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:110547200-110547600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr8:110547200-110547800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:110547200-110548000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:110547200-110548000	Enhancers	NHEK	skin
15	chr8:110547200-110548200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:110547200-110548400	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:110547400-110547600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:110547400-110547800	Weak transcription	Brain Germinal Matrix	brain
19	chr8:110547400-110547800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:110547400-110548400	Enhancers	HSMM	muscle
21	chr8:110547400-110550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:110547400-110550800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:110547400-110551200	Weak transcription	Fetal Intestine Small	intestine

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