Variant report

Variant	rs9298138
Chromosome Location	chr8:69767914-69767915
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:69767593-69768147	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:69766397..69768626-chr8:69981914..69983508,2	MCF-7	breast:
2	chr8:69765041..69767952-chr8:69838126..69840398,3	MCF-7	breast:
3	chr8:69765448..69769118-chr8:69936665..69941458,7	MCF-7	breast:
4	chr8:69765354..69768313-chr8:70403823..70406098,3	MCF-7	breast:
5	chr8:69766996..69770289-chr8:69772994..69775447,3	MCF-7	breast:
6	chr8:69645690..69648513-chr8:69767152..69768699,2	MCF-7	breast:
7	chr8:69762198..69770207-chr8:70021083..70026192,14	MCF-7	breast:
8	chr8:69766441..69769103-chr8:69782417..69786375,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254337	TF binding region
ENSG00000137573	Chromatin interaction
ENSG00000238808	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4145295	0.96[CEU][hapmap];0.85[JPT][hapmap];0.98[TSI][hapmap];0.97[EUR][1000 genomes]
rs4737921	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6472423	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7813980	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814005	0.95[CEU][hapmap];0.88[JPT][hapmap]
rs7826240	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7835852	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7835988	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9792160	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465703	chr8:69641287-69814578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv611462	chr8:69641287-69814578	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1017131	chr8:69676989-69792515	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1031642	chr8:69728620-69814849	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1033122	chr8:69728620-69843088	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1018791	chr8:69729491-69814849	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv470214	chr8:69745066-69814577	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv465704	chr8:69745066-69814578	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv611463	chr8:69745066-69814578	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9298138	RP11-865I6.2	cis	Artery Tibial	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69756200-69776000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:69763000-69778600	Weak transcription	Aorta	Aorta
3	chr8:69767000-69771200	Weak transcription	NHDF-Ad	bronchial
4	chr8:69767000-69771600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:69767000-69771800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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