Variant report

Variant	rs11781500
Chromosome Location	chr8:11567833-11567834
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	chr8:11559801..11562734-chr8:11565950..11568340,2	K562	blood:

Variant related genes	Relation type
ENSG00000136574	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10088151	0.91[ASN][1000 genomes]
rs11777611	0.89[ASN][1000 genomes]
rs11785555	0.80[EUR][1000 genomes]
rs2409813	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28473684	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28530664	0.87[ASN][1000 genomes]
rs34888744	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35813172	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4269498	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4489290	0.93[ASN][1000 genomes]
rs61277615	0.93[EUR][1000 genomes]
rs62489319	0.89[ASN][1000 genomes]
rs6990313	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73203483	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73203488	0.80[EUR][1000 genomes]
rs7817412	0.96[ASN][1000 genomes]
rs7837066	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv6079	chr8:11564157-11573046	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11781500	USP17L2,USP17L4	cis	cerebellar cortex	BrainEAC

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
4	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
5	chr8:11565000-11568200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:11565400-11568000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:11565400-11568200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr8:11565600-11568000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr8:11566400-11568000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:11566400-11568800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr8:11566600-11568000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:11566600-11568000	Active TSS	Right Ventricle	heart
13	chr8:11567200-11568200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr8:11567200-11574400	Enhancers	Liver	Liver
15	chr8:11567400-11568000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr8:11567400-11568200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:11567400-11568600	Active TSS	Duodenum Mucosa	Duodenum
18	chr8:11567400-11568600	Active TSS	Ovary	ovary
19	chr8:11567600-11568000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:11567800-11568000	Bivalent Enhancer	Placenta	Placenta
21	chr8:11567800-11568000	Active TSS	Gastric	stomach
22	chr8:11567800-11568600	Strong transcription	HepG2	liver
23	chr8:11567800-11570400	Enhancers	Fetal Heart	heart

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