Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183407157..183409269-chr2:183412477..183414356,2	K562	blood:
2	chr2:183409611..183411975-chr2:183412414..183414560,2	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10931017	0.81[CEU][hapmap]
rs10931020	1.00[CEU][hapmap]
rs10931022	0.81[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap]
rs1430146	0.80[EUR][1000 genomes]
rs1430149	0.85[EUR][1000 genomes]
rs1560375	0.87[EUR][1000 genomes]
rs17356755	0.85[LWK][hapmap]
rs1835340	0.85[EUR][1000 genomes]
rs2082135	0.90[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2368300	0.81[CEU][hapmap]
rs2368301	0.81[CEU][hapmap]
rs2368302	0.81[CEU][hapmap]
rs4666589	0.80[EUR][1000 genomes]
rs4666850	0.83[EUR][1000 genomes]
rs6433976	0.90[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs6760317	0.89[CEU][hapmap]
rs720245	0.85[EUR][1000 genomes]
rs7595111	0.83[EUR][1000 genomes]
rs934260	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs934261	0.90[CEU][hapmap];0.85[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2368282	PDE1A	cis	Brain Pons	GTEx
rs2368282	PDE1A	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183411600-183416000	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:183413200-183415000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:183413200-183415000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:183413200-183415000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:183413600-183414600	Enhancers	Adipose Nuclei	Adipose
6	chr2:183413600-183414800	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:183413600-183416200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:183413800-183414400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:183413800-183415000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:183413800-183416200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:183413800-183416200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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