Variant report

Variant	rs2368301
Chromosome Location	chr2:183369652-183369653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10931017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs10931020	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10931022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12621579	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs1430146	0.88[EUR][1000 genomes]
rs1430149	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1560375	0.81[EUR][1000 genomes]
rs1594306	0.93[CEU][hapmap];1.00[CHB][hapmap]
rs1835340	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2082135	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2368300	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs2368302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35931221	0.80[EUR][1000 genomes]
rs4666845	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs4666850	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6433976	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6747766	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs6760317	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs720245	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7557419	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7595111	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7597921	1.00[CHB][hapmap]
rs934260	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs934261	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs934263	0.80[EUR][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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2368301	PDE1A	cis	Brain Pons	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183361600-183392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183365600-183371400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:183366200-183370600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:183366800-183369800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:183367800-183373800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:183368000-183371600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:183368200-183370000	Enhancers	Hela-S3	cervix
8	chr2:183368200-183370200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:183368200-183372800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:183368400-183369800	Enhancers	NH-A	brain
11	chr2:183368400-183370000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:183368400-183370800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:183368400-183371400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:183368600-183370000	Enhancers	NHDF-Ad	bronchial
15	chr2:183368600-183370200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:183368600-183370200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:183368600-183370800	Enhancers	Osteobl	bone
18	chr2:183369400-183370200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:183369600-183370200	Enhancers	NHLF	lung
20	chr2:183369600-183372000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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