Variant report

Variant	rs131067
Chromosome Location	chr22:33044995-33044996
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1547412	1.00[JPT][hapmap]
rs16990851	1.00[CHB][hapmap]
rs2051568	0.91[ASW][hapmap]
rs2710347	0.89[AFR][1000 genomes]
rs2858224	0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs3788466	1.00[CHB][hapmap]
rs4821079	1.00[JPT][hapmap]
rs56379669	0.86[ASN][1000 genomes]
rs9621514	1.00[CHB][hapmap]

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	nsv1055541	chr22:33006967-33101138	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2762119	chr22:33006967-33101150	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1061824	chr22:33013014-33101138	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv459875	chr22:33025180-33097662	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv588896	chr22:33025180-33097662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs131067	DEPDC5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33040800-33053400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:33040800-33054400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:33041000-33045200	Weak transcription	Left Ventricle	heart
4	chr22:33041200-33045000	Weak transcription	Fetal Lung	lung
5	chr22:33041800-33050000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:33042800-33045000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:33044400-33047400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr22:33044600-33046200	Enhancers	Primary hematopoietic stem cells	blood
9	chr22:33044600-33047400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr22:33044600-33047600	Enhancers	HSMMtube	muscle
11	chr22:33044800-33046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:33044800-33046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:33044800-33046800	Enhancers	Osteobl	bone
14	chr22:33044800-33047200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:33044800-33047200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr22:33044800-33047200	Enhancers	HSMM	muscle
17	chr22:33044800-33047800	Enhancers	K562	blood

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

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