Variant report

Variant	rs1391984
Chromosome Location	chr5:52129172-52129173
allele	C/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:4)

rs_ID	r²[population]
rs1391983	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17211331	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17277080	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72756561	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1032554	chr5:52126688-52174119	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1391984	PPAP2A	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52106200-52132600	Weak transcription	Lung	lung
2	chr5:52118600-52137600	Weak transcription	Small Intestine	intestine
3	chr5:52119000-52133000	Weak transcription	Aorta	Aorta
4	chr5:52119600-52132200	Weak transcription	NHLF	lung
5	chr5:52122000-52133000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:52124200-52132600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:52124800-52136200	Weak transcription	Psoas Muscle	Psoas
8	chr5:52126600-52131000	Weak transcription	Liver	Liver
9	chr5:52126800-52132400	Weak transcription	Adipose Nuclei	Adipose
10	chr5:52126800-52133000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:52126800-52133000	Weak transcription	Left Ventricle	heart
12	chr5:52126800-52133000	Weak transcription	NH-A	brain
13	chr5:52126800-52136000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:52127200-52130000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:52128200-52130000	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:52128200-52132200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:52128200-52132400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:52128200-52132400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:52128200-52132800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:52128200-52133000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:52128200-52133000	Weak transcription	Osteobl	bone
22	chr5:52128200-52133400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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