Variant report

Variant	rs3113387
Chromosome Location	chr4:124741086-124741087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1025505	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143652	0.84[EUR][1000 genomes]
rs1347185	0.89[EUR][1000 genomes]
rs1347186	0.85[AFR][1000 genomes]
rs1347188	0.85[AFR][1000 genomes]
rs1433212	1.00[ASN][1000 genomes]
rs1433215	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836039	0.84[EUR][1000 genomes]
rs2011356	0.83[EUR][1000 genomes]
rs2113978	0.83[EUR][1000 genomes]
rs2390585	0.83[EUR][1000 genomes]
rs3097904	0.89[EUR][1000 genomes]
rs3097905	0.89[EUR][1000 genomes]
rs3097907	0.89[EUR][1000 genomes]
rs3113384	0.83[EUR][1000 genomes]
rs3860075	0.81[EUR][1000 genomes]
rs4336238	0.81[EUR][1000 genomes]
rs4833951	0.83[EUR][1000 genomes]
rs6830973	0.81[EUR][1000 genomes]
rs6847105	0.83[EUR][1000 genomes]
rs7673904	0.83[EUR][1000 genomes]
rs979755	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3113387	NUDT6	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124735200-124753800	Weak transcription	Psoas Muscle	Psoas
2	chr4:124737600-124752200	Weak transcription	Gastric	stomach
3	chr4:124738000-124742800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:124738200-124743000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:124738400-124748000	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:124739800-124741800	Enhancers	Fetal Intestine Large	intestine
7	chr4:124740200-124744800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:124740400-124741200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:124740400-124741400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:124740400-124741400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:124740400-124741400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:124740400-124741400	Enhancers	NHDF-Ad	bronchial
13	chr4:124740600-124741600	Enhancers	HMEC	breast
14	chr4:124740800-124741200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:124740800-124741200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:124740800-124741600	Enhancers	NHLF	lung
17	chr4:124741000-124741200	Enhancers	HepG2	liver
18	chr4:124741000-124741600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:124741000-124741600	Enhancers	Fetal Intestine Small	intestine
20	chr4:124741000-124745400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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