Variant report

Variant	rs3750592
Chromosome Location	chr10:18691018-18691019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10828650	0.81[CHD][hapmap]
rs11014012	0.91[CEU][hapmap];0.81[JPT][hapmap]
rs11014084	0.85[JPT][hapmap]
rs11014092	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11014101	0.87[ASN][1000 genomes]
rs11014102	0.87[ASN][1000 genomes]
rs11014144	0.85[JPT][hapmap]
rs11014210	0.81[JPT][hapmap]
rs11014211	0.81[JPT][hapmap]
rs11819196	0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs16917281	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs17690664	0.85[JPT][hapmap]
rs3829133	0.90[JPT][hapmap]
rs4293031	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7477742	0.83[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[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	nsv550042	chr10:18683267-18994583	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3750592	PPIP5K1	trans	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18688800-18691800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr10:18689000-18691200	Active TSS	Colonic Mucosa	Colon
3	chr10:18689000-18691800	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr10:18689000-18692600	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr10:18689200-18691600	Weak transcription	Small Intestine	intestine
6	chr10:18689200-18692400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:18689200-18692800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr10:18690000-18703600	Weak transcription	Fetal Stomach	stomach
9	chr10:18690000-18705600	Weak transcription	Aorta	Aorta
10	chr10:18690200-18692000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr10:18690200-18695800	Weak transcription	Right Ventricle	heart
12	chr10:18690200-18698000	Weak transcription	Left Ventricle	heart
13	chr10:18690200-18713000	Weak transcription	Ovary	ovary
14	chr10:18690600-18702800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:18690800-18692000	Enhancers	Liver	Liver
16	chr10:18691000-18691200	Enhancers	Brain Germinal Matrix	brain
17	chr10:18691000-18691200	Enhancers	Fetal Brain Female	brain
18	chr10:18691000-18691600	Genic enhancers	Fetal Heart	heart
19	chr10:18691000-18691800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr10:18691000-18692000	Weak transcription	Brain Angular Gyrus	brain
21	chr10:18691000-18693800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr10:18691000-18698600	Weak transcription	Fetal Intestine Large	intestine
23	chr10:18691000-18702600	Weak transcription	Pancreas	Pancrea

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