Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr18:11688494-11688584	GM12878	blood:	n/a	n/a
2	E2F4	chr18:11688499-11688765	MCF10A-Er-Src	breast:	n/a	chr18:11688546-11688553 chr18:11688546-11688553 chr18:11688546-11688553

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11661437..11663649-chr18:11686391..11688864,2	K562	blood:

Variant related genes	Relation type
GNAL	TF binding region

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1013459	0.84[ASN][1000 genomes]
rs16976596	0.92[ASN][1000 genomes]
rs17515304	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17515325	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863122	0.84[ASN][1000 genomes]
rs2035194	0.84[ASN][1000 genomes]
rs2035195	0.84[ASN][1000 genomes]
rs28620345	0.92[ASN][1000 genomes]
rs57892223	0.84[ASN][1000 genomes]
rs61124787	1.00[ASN][1000 genomes]
rs61670374	0.84[ASN][1000 genomes]
rs6505670	0.84[ASN][1000 genomes]
rs71367576	0.92[ASN][1000 genomes]
rs7236433	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7237466	0.84[ASN][1000 genomes]
rs7237945	0.84[ASN][1000 genomes]
rs8085488	0.84[ASN][1000 genomes]
rs8087266	0.84[ASN][1000 genomes]
rs8087897	0.84[ASN][1000 genomes]
rs8090096	0.84[ASN][1000 genomes]
rs8096345	0.84[ASN][1000 genomes]
rs8098596	0.84[ASN][1000 genomes]
rs8099016	0.84[ASN][1000 genomes]
rs8099179	0.84[ASN][1000 genomes]
rs8099342	0.84[ASN][1000 genomes]
rs8099486	0.92[ASN][1000 genomes]
rs9303742	0.92[ASN][1000 genomes]
rs9966615	0.83[EUR][1000 genomes];1.00[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	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv518207	chr18:11670845-11695676	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv516128	chr18:11683431-11695676	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11688400-11688600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
2	chr18:11688400-11688600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr18:11688400-11688600	Enhancers	Brain Hippocampus Middle	brain
4	chr18:11688400-11688600	Enhancers	Colon Smooth Muscle	Colon
5	chr18:11688400-11688600	Enhancers	Stomach Smooth Muscle	stomach
6	chr18:11688400-11688800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr18:11688400-11688800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr18:11688400-11688800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:11688400-11689000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:11688400-11689000	Flanking Active TSS	Hela-S3	cervix
11	chr18:11688400-11689400	Active TSS	Fetal Brain Female	brain

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