Variant report

Variant	rs3732047
Chromosome Location	chr2:67125383-67125384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12467586	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17587626	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17631953	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs36122997	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6721312	0.91[EUR][1000 genomes]
rs6731610	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72809732	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7419773	0.91[EUR][1000 genomes]
rs7591850	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs868373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874247	chr2:67105342-67141322	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2762259	chr2:67109728-67165987	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3732047	APLF	cis	parietal	SCAN
rs3732047	MEIS1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67123000-67125800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:67123200-67125800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:67123200-67126200	Enhancers	Fetal Lung	lung
4	chr2:67123400-67126000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:67123400-67126200	Enhancers	Fetal Stomach	stomach
6	chr2:67123600-67125800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:67123600-67126600	Enhancers	HSMMtube	muscle
8	chr2:67123800-67125400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:67123800-67125600	Enhancers	HSMM	muscle
10	chr2:67123800-67125600	Enhancers	NHDF-Ad	bronchial
11	chr2:67123800-67127000	Enhancers	Rectal Smooth Muscle	rectum
12	chr2:67124000-67125600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:67124000-67125800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:67124000-67126800	Enhancers	NHLF	lung
15	chr2:67124200-67125400	Enhancers	Brain Germinal Matrix	brain
16	chr2:67124200-67125400	Enhancers	NH-A	brain
17	chr2:67124200-67125800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:67124200-67127200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:67124400-67126200	Enhancers	Stomach Smooth Muscle	stomach
20	chr2:67124600-67125800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:67124600-67128400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:67124800-67125400	Weak transcription	Osteobl	bone
23	chr2:67124800-67128200	Weak transcription	Fetal Heart	heart
24	chr2:67124800-67128400	Weak transcription	Fetal Kidney	kidney
25	chr2:67125000-67125400	Weak transcription	Ovary	ovary
26	chr2:67125000-67125800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:67125200-67125400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:67125200-67125600	Enhancers	Adipose Nuclei	Adipose

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