Variant report

Variant	rs13270944
Chromosome Location	chr8:20143440-20143441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11997874	0.94[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs13260323	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268814	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17092214	0.87[MEX][hapmap]
rs2898500	0.84[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes]
rs66746853	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv890644	chr8:20138477-20162213	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13270944	PSD3	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20135400-20145400	Weak transcription	Fetal Lung	lung
2	chr8:20136000-20144000	Weak transcription	Esophagus	oesophagus
3	chr8:20137400-20143600	Genic enhancers	Dnd41	blood
4	chr8:20138400-20143800	Weak transcription	Brain Anterior Caudate	brain
5	chr8:20138400-20144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:20138600-20143800	Weak transcription	Fetal Brain Male	brain
7	chr8:20138800-20145600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:20140000-20145400	Weak transcription	Placenta	Placenta
9	chr8:20140200-20145400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:20141600-20144000	Weak transcription	Brain Germinal Matrix	brain
11	chr8:20141800-20145600	Weak transcription	Ovary	ovary
12	chr8:20141800-20146600	Weak transcription	HSMMtube	muscle
13	chr8:20142000-20144000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:20142000-20144000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:20142000-20147400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:20142400-20145600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:20142400-20146800	Weak transcription	NHLF	lung
18	chr8:20142600-20144000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:20142600-20144000	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:20142800-20144200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:20142800-20145800	Weak transcription	NHDF-Ad	bronchial
22	chr8:20143200-20143800	Weak transcription	HSMM	muscle
23	chr8:20143200-20144800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:20143400-20143600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:20143400-20143600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:20143400-20144000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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