Variant report

Variant	rs2432144
Chromosome Location	chr5:52133266-52133267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1391983	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[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
rs2432144	PPAP2A	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52118600-52137600	Weak transcription	Small Intestine	intestine
2	chr5:52124800-52136200	Weak transcription	Psoas Muscle	Psoas
3	chr5:52126800-52136000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:52128200-52133400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:52130400-52141200	Weak transcription	Ovary	ovary
6	chr5:52131800-52133800	Enhancers	Colon Smooth Muscle	Colon
7	chr5:52132400-52133600	Enhancers	Adipose Nuclei	Adipose
8	chr5:52132400-52136000	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:52132600-52134400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:52132800-52133400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:52132800-52133800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr5:52132800-52133800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:52132800-52135000	Enhancers	NHDF-Ad	bronchial
14	chr5:52132800-52135800	Enhancers	Liver	Liver
15	chr5:52133000-52133400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:52133000-52133400	Active TSS	Brain Anterior Caudate	brain
17	chr5:52133000-52133400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:52133000-52133400	Enhancers	Brain Substantia Nigra	brain
19	chr5:52133000-52133400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:52133000-52133400	Flanking Active TSS	HUVEC	blood vessel
21	chr5:52133000-52133400	Flanking Active TSS	Osteobl	bone
22	chr5:52133000-52133600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:52133000-52133800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:52133000-52134000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:52133000-52134000	Active TSS	Aorta	Aorta
26	chr5:52133000-52134000	Enhancers	Fetal Lung	lung
27	chr5:52133000-52134600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:52133000-52134600	Enhancers	Hela-S3	cervix
29	chr5:52133000-52134800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:52133200-52133400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:52133200-52133400	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr5:52133200-52133400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr5:52133200-52133400	Flanking Active TSS	HSMMtube	muscle
34	chr5:52133200-52133400	Enhancers	NH-A	brain
35	chr5:52133200-52133600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr5:52133200-52133600	Flanking Active TSS	NHLF	lung
37	chr5:52133200-52134000	Active TSS	Stomach Smooth Muscle	stomach
38	chr5:52133200-52134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:52133200-52138000	Weak transcription	Spleen	Spleen
40	chr5:52133200-52138200	Enhancers	Fetal Kidney	kidney
41	chr5:52133200-52141200	Weak transcription	Left Ventricle	heart
42	chr5:52133200-52143400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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