Variant report

Variant	rs1667745
Chromosome Location	chr3:24298999-24299000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:24297598..24300449-chr3:24300690..24305218,5	K562	blood:
2	chr3:24298149..24300449-chr3:24302708..24304769,2	K562	blood:
3	chr3:24298797..24301703-chr3:24554490..24556064,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1021913	0.82[AMR][1000 genomes]
rs1077633	0.85[EUR][1000 genomes]
rs11718500	0.85[EUR][1000 genomes]
rs1505300	0.85[EUR][1000 genomes]
rs1667744	0.96[CEU][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1667746	0.94[EUR][1000 genomes]
rs1667747	0.85[EUR][1000 genomes]
rs1667750	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1667751	0.83[EUR][1000 genomes]
rs1700939	0.95[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2885233	0.82[AMR][1000 genomes]
rs7627249	0.84[EUR][1000 genomes]
rs826226	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826227	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826228	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs826235	0.84[MEX][hapmap];0.82[EUR][1000 genomes]
rs931813	0.82[AMR][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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv876626	chr3:24281488-24327131	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv527561	chr3:24285768-24313506	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv521447	chr3:24292825-24299505	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv528341	chr3:24292825-24299505	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv519524	chr3:24294381-24299505	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1667745	PPPDE1	trans	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24272400-24301400	Weak transcription	Fetal Intestine Large	intestine
2	chr3:24284200-24300600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:24284600-24300400	Weak transcription	Pancreas	Pancrea
4	chr3:24285200-24299600	Weak transcription	Left Ventricle	heart
5	chr3:24286800-24299200	Weak transcription	Adipose Nuclei	Adipose
6	chr3:24295200-24299600	Weak transcription	Aorta	Aorta
7	chr3:24295200-24299600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:24295400-24300000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:24295400-24306400	Weak transcription	HepG2	liver
10	chr3:24296600-24299200	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:24296600-24299400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:24296800-24299200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:24296800-24299600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:24296800-24300800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:24296800-24301400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:24297000-24300600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:24297200-24299200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:24297200-24335000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:24297800-24299200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:24298200-24299200	Weak transcription	Psoas Muscle	Psoas
21	chr3:24298400-24299600	Weak transcription	Right Ventricle	heart
22	chr3:24298400-24301600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:24298600-24300600	Weak transcription	K562	blood
24	chr3:24298800-24300000	Enhancers	Skeletal Muscle Female	skeletal muscle

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