Variant report

Variant	rs4840579
Chromosome Location	chr8:11584425-11584426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11581565..11584729-chr8:11586441..11588114,3	K562	blood:
2	chr8:11583078..11587577-chr8:11589128..11594677,6	K562	blood:
3	chr8:11509386..11512039-chr8:11582256..11584769,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10086064	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10101661	0.80[EUR][1000 genomes]
rs10112596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13278982	0.85[ASN][1000 genomes]
rs1390950	0.85[CHB][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.85[ASN][1000 genomes]
rs2409806	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2409808	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4613960	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs62489352	0.82[EUR][1000 genomes]
rs66494852	0.88[EUR][1000 genomes]
rs6986736	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73203495	0.93[ASN][1000 genomes]
rs7833127	0.95[ASN][1000 genomes]
rs7833508	0.93[ASN][1000 genomes]
rs7846104	0.91[ASN][1000 genomes]
rs9329247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4840579	PRSS55	cis	cerebellum	SCAN
rs4840579	PPP1R3B	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11576200-11584800	Enhancers	Liver	Liver
2	chr8:11580800-11585200	Enhancers	Right Ventricle	heart
3	chr8:11581000-11586800	Enhancers	Left Ventricle	heart
4	chr8:11581400-11584800	Genic enhancers	Gastric	stomach
5	chr8:11581400-11585000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr8:11581800-11585000	Genic enhancers	HepG2	liver
7	chr8:11582000-11584600	Enhancers	Right Atrium	heart
8	chr8:11582200-11587200	Enhancers	Fetal Heart	heart
9	chr8:11582600-11584800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:11582600-11584800	Bivalent Enhancer	Placenta	Placenta
11	chr8:11582600-11585000	Enhancers	Pancreas	Pancrea
12	chr8:11582600-11589000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:11583000-11585000	Enhancers	HMEC	breast
14	chr8:11583200-11584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:11583200-11584800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:11583200-11585000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:11583200-11590600	Enhancers	Ovary	ovary
18	chr8:11583400-11584600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:11583400-11584800	Enhancers	Stomach Mucosa	stomach
20	chr8:11583400-11585000	Bivalent Enhancer	NHEK	skin
21	chr8:11583600-11584800	Genic enhancers	Fetal Intestine Small	intestine
22	chr8:11583800-11584800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:11584000-11584600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:11584000-11584800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:11584000-11585000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:11584000-11585000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:11584000-11585400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:11584000-11585600	Enhancers	HUVEC	blood vessel
29	chr8:11584200-11584800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:11584200-11584800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:11584200-11584800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
32	chr8:11584400-11584600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr8:11584400-11584600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr8:11584400-11584600	Flanking Active TSS	A549	lung
35	chr8:11584400-11584800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:11584400-11584800	Bivalent Enhancer	Small Intestine	intestine
37	chr8:11584400-11584800	Enhancers	HSMM	muscle
38	chr8:11584400-11584800	Enhancers	HSMMtube	muscle
39	chr8:11584400-11585000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr8:11584400-11585000	Flanking Active TSS	Hela-S3	cervix
41	chr8:11584400-11585000	Enhancers	Osteobl	bone

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