Variant report

Variant	rs1347186
Chromosome Location	chr4:124745714-124745715
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13127966	0.85[EUR][1000 genomes]
rs1347188	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425411	0.85[EUR][1000 genomes]
rs1433217	0.93[EUR][1000 genomes]
rs17007324	0.85[EUR][1000 genomes]
rs3097911	0.87[AFR][1000 genomes]
rs3097922	0.93[EUR][1000 genomes]
rs3113387	0.85[AFR][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
rs1347186	FAT4	cis	cerebellum	SCAN

Chromatin state (count:23 , 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	chr4:124738400-124748000	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:124741400-124746600	Weak transcription	NHDF-Ad	bronchial
5	chr4:124743200-124759800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:124743400-124746600	Weak transcription	HMEC	breast
7	chr4:124743600-124746000	Weak transcription	Osteobl	bone
8	chr4:124743600-124751000	Weak transcription	Fetal Lung	lung
9	chr4:124743800-124745800	Weak transcription	NHLF	lung
10	chr4:124743800-124746400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:124743800-124746800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:124743800-124752000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:124743800-124752600	Weak transcription	Right Atrium	heart
14	chr4:124744000-124752400	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:124744400-124746000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:124744400-124747000	Enhancers	HepG2	liver
17	chr4:124745000-124749200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:124745200-124747000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:124745200-124747600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:124745400-124746400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:124745400-124747600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:124745400-124748600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:124745600-124746400	Enhancers	Fetal Intestine Large	intestine

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