Variant report

Variant	rs4582526
Chromosome Location	chr8:130714064-130714065
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	chr8:130711772..130714340-chr8:130717144..130719006,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10092783	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12678545	0.94[ASN][1000 genomes]
rs4144738	0.83[GIH][hapmap]
rs4425724	0.85[GIH][hapmap];0.83[MEX][hapmap]
rs4518624	0.85[GIH][hapmap]
rs4733557	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733729	0.88[CEU][hapmap];0.94[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.94[JPT][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733734	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4994386	0.94[EUR][1000 genomes]
rs7822056	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7846627	0.85[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4582526	GSDMC	cis	Esophagus Mucosa	GTEx
rs4582526	PTMA	trans	cerebellum	SCAN
rs4582526	MLZE	cis	lesional skin	skin_eQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130708200-130720200	Weak transcription	Esophagus	oesophagus
2	chr8:130710400-130715400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:130710600-130716400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:130710600-130719800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:130710800-130716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:130710800-130719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:130710800-130719200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:130710800-130719400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:130710800-130719800	Weak transcription	NHLF	lung
10	chr8:130710800-130720000	Weak transcription	HSMMtube	muscle
11	chr8:130711400-130716000	Weak transcription	A549	lung
12	chr8:130713200-130714600	Enhancers	Fetal Lung	lung
13	chr8:130713200-130714600	Enhancers	Fetal Muscle Leg	muscle
14	chr8:130713200-130714600	Enhancers	Fetal Stomach	stomach
15	chr8:130713200-130714600	Enhancers	K562	blood
16	chr8:130713400-130714600	Enhancers	Placenta	Placenta
17	chr8:130713600-130714200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:130713600-130714400	Enhancers	Fetal Kidney	kidney
19	chr8:130713600-130714600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:130713600-130714600	Enhancers	Ovary	ovary
21	chr8:130713800-130714200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:130713800-130714200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:130713800-130714600	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:130714000-130714400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:130714000-130714600	Enhancers	HSMM	muscle

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