Variant report

Variant	rs6988458
Chromosome Location	chr8:99085890-99085891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99076443..99079804-chr8:99082104..99085952,3	K562	blood:
2	chr8:99084386..99086516-chr8:99128038..99129656,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104356	Chromatin interaction
ENSG00000132541	Chromatin interaction
ENSG00000177459	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12375372	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12674810	1.00[AFR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes]
rs12680911	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1378121	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16892217	1.00[AFR][1000 genomes]
rs16896467	1.00[AFR][1000 genomes]
rs16896468	1.00[AFR][1000 genomes]
rs16896471	1.00[AFR][1000 genomes]
rs16896514	1.00[AFR][1000 genomes]
rs16896521	1.00[AFR][1000 genomes]
rs16896564	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16896600	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2010014	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2045805	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2061053	1.00[AFR][1000 genomes]
rs2290473	1.00[AFR][1000 genomes]
rs34354078	1.00[AFR][1000 genomes]
rs4734381	1.00[AFR][1000 genomes]
rs59704264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60346298	1.00[AFR][1000 genomes]
rs60580631	1.00[AFR][1000 genomes]
rs6980810	1.00[AFR][1000 genomes]
rs7010226	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes]
rs72678728	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72678733	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72678734	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72678737	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72678752	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72678755	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72678761	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72678762	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7830701	0.85[EUR][1000 genomes]
rs7843262	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv465745	chr8:99061992-99116201	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv611805	chr8:99061992-99116201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv3323751	chr8:99084601-99087149	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3389274	chr8:99084926-99086824	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6988458	C8orf47	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99082400-99090200	Weak transcription	Stomach Mucosa	stomach
2	chr8:99082400-99090800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:99083400-99092200	Weak transcription	Pancreas	Pancrea
4	chr8:99083600-99087600	Weak transcription	Liver	Liver

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