Variant report

Variant	rs1550856
Chromosome Location	chr8:117805397-117805398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117778464..117780161-chr8:117803069..117805763,2	MCF-7	breast:
2	chr8:117804606..117806220-chr8:117812796..117814658,2	K562	blood:
3	chr8:117804720..117807505-chr8:117812796..117815488,2	K562	blood:
4	chr8:117801485..117803736-chr8:117805253..117808179,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147679	Chromatin interaction
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16888695	0.90[ASN][1000 genomes]
rs16888699	0.90[ASN][1000 genomes]
rs16888728	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.90[ASN][1000 genomes]
rs1867840	0.88[ASW][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.80[YRI][hapmap]
rs28649280	0.90[ASN][1000 genomes]
rs28651059	0.90[ASN][1000 genomes]
rs4289842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs58836328	0.90[ASN][1000 genomes]
rs67676723	0.90[ASN][1000 genomes]
rs6983626	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7014328	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.98[MKK][hapmap];0.82[YRI][hapmap];0.90[ASN][1000 genomes]
rs7014359	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap]
rs72681699	0.90[ASN][1000 genomes]
rs7388498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7388507	0.90[ASN][1000 genomes]
rs7823271	0.90[ASN][1000 genomes]
rs7828067	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.90[ASN][1000 genomes]
rs7829098	0.81[ASN][1000 genomes]
rs7832540	0.90[ASN][1000 genomes]
rs7837208	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7838174	0.90[ASN][1000 genomes]
rs9693860	0.90[ASN][1000 genomes]
rs979866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs979867	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.89[MKK][hapmap];0.90[ASN][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1027259	chr8:117790928-117842055	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1034015	chr8:117790928-117843979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1550856	C8orf53	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117780400-117830200	Weak transcription	Aorta	Aorta
2	chr8:117782000-117814000	Weak transcription	Ovary	ovary

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