Variant report

Variant	rs2045805
Chromosome Location	chr8:99091245-99091246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99056857..99059460-chr8:99091199..99095335,6	MCF-7	breast:
2	chr8:99046565..99048917-chr8:99089595..99092065,2	MCF-7	breast:
3	chr8:99091170..99093628-chr8:99095565..99098052,2	K562	blood:
4	chr8:99085933..99088914-chr8:99090507..99092647,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156482	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12375372	1.00[AFR][1000 genomes]
rs12674810	1.00[AFR][1000 genomes]
rs12675608	1.00[AFR][1000 genomes]
rs12680911	1.00[AFR][1000 genomes]
rs1378121	1.00[AFR][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]
rs16896600	1.00[AFR][1000 genomes]
rs2010014	1.00[AFR][1000 genomes]
rs2045807	1.00[AFR][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]
rs60346298	1.00[AFR][1000 genomes]
rs60580631	1.00[AFR][1000 genomes]
rs6980810	1.00[AFR][1000 genomes]
rs6988458	1.00[AFR][1000 genomes]
rs7010226	1.00[AFR][1000 genomes]
rs72677062	1.00[AFR][1000 genomes]
rs72677085	1.00[AFR][1000 genomes]
rs72677098	1.00[AFR][1000 genomes]
rs72678733	1.00[AFR][1000 genomes]
rs72678734	1.00[AFR][1000 genomes]
rs72678737	1.00[AFR][1000 genomes]
rs72678752	1.00[AFR][1000 genomes]
rs72678755	1.00[AFR][1000 genomes]
rs72678761	1.00[AFR][1000 genomes]
rs72678762	1.00[AFR][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	nsv465746	chr8:99088251-99117532	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv611806	chr8:99088251-99117532	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2045805	SPATA20	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99083400-99092200	Weak transcription	Pancreas	Pancrea
2	chr8:99091000-99092200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:99091200-99092200	Weak transcription	Stomach Mucosa	stomach
4	chr8:99091200-99098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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