Variant report

Variant	rs12572188
Chromosome Location	chr10:23220277-23220278
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10828375	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2464635	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs7078414	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764013	chr10:23087298-23239345	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12572188	DPPA4	trans	lymphoblastoid	seeQTL
rs12572188	COL5A2	trans	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23217200-23220400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr10:23217200-23221000	Weak transcription	HSMM	muscle
3	chr10:23217400-23220400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:23217400-23220400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:23217400-23220400	Weak transcription	Brain Angular Gyrus	brain
6	chr10:23217400-23220400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:23217400-23220400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr10:23217400-23220600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:23217400-23220600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:23217400-23220600	Weak transcription	Fetal Heart	heart
11	chr10:23217400-23220600	Weak transcription	NH-A	brain
12	chr10:23217400-23220800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:23217400-23220800	Weak transcription	GM12878-XiMat	blood
14	chr10:23217400-23221000	Weak transcription	Brain Substantia Nigra	brain
15	chr10:23217600-23220600	Weak transcription	Brain Hippocampus Middle	brain
16	chr10:23218800-23221200	Weak transcription	Brain Anterior Caudate	brain
17	chr10:23219800-23221200	Weak transcription	Adipose Nuclei	Adipose

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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