Variant report

Variant	rs4074083
Chromosome Location	chr8:10337788-10337789
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10089552	0.82[JPT][hapmap]
rs10283145	0.82[JPT][hapmap]
rs10903328	0.94[ASN][1000 genomes]
rs11774221	0.82[JPT][hapmap]
rs11777976	1.00[JPT][hapmap]
rs11990519	1.00[JPT][hapmap]
rs13252982	1.00[JPT][hapmap]
rs13254263	1.00[JPT][hapmap]
rs17151843	0.82[JPT][hapmap]
rs17709397	0.82[JPT][hapmap]
rs17765901	0.82[JPT][hapmap]
rs17767019	1.00[JPT][hapmap]
rs17788148	0.82[JPT][hapmap]
rs2001364	0.82[JPT][hapmap]
rs34308302	0.94[ASN][1000 genomes]
rs3750310	1.00[JPT][hapmap]
rs3750311	1.00[JPT][hapmap]
rs4342552	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4433149	0.82[JPT][hapmap]
rs4610752	0.82[JPT][hapmap]
rs4841351	0.82[ASN][1000 genomes]
rs4841352	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs56269910	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58353554	0.89[ASN][1000 genomes]
rs60364191	0.82[ASN][1000 genomes]
rs6601451	0.82[JPT][hapmap]
rs6989657	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6993610	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7824675	0.82[JPT][hapmap]
rs7831557	1.00[JPT][hapmap]
rs7833781	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7841921	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv890349	chr8:10294330-10355302	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1019090	chr8:10303099-10369061	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1024976	chr8:10303099-10385361	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv890350	chr8:10305317-10346588	Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4074083	PRSS55	cis	cerebellum	SCAN
rs4074083	DLC1	cis	parietal	SCAN
rs4074083	MFHAS1	cis	cerebellum	SCAN
rs4074083	TDH	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10328200-10338000	Strong transcription	Fetal Brain Female	brain
2	chr8:10329000-10345600	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:10329200-10339200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr8:10329200-10340400	Weak transcription	Brain Angular Gyrus	brain
5	chr8:10329200-10342200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:10330200-10338000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr8:10331000-10341000	Weak transcription	Spleen	Spleen
8	chr8:10331000-10341800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:10331200-10342800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:10332400-10339400	Weak transcription	Ovary	ovary
11	chr8:10332600-10340400	Weak transcription	Gastric	stomach
12	chr8:10332800-10339800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:10332800-10344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:10335200-10339800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:10335400-10338200	Weak transcription	Liver	Liver
16	chr8:10335400-10342200	Strong transcription	Brain Germinal Matrix	brain
17	chr8:10335400-10355200	Weak transcription	Fetal Brain Male	brain
18	chr8:10335600-10339400	Weak transcription	Pancreas	Pancrea
19	chr8:10335600-10341200	Weak transcription	Adipose Nuclei	Adipose
20	chr8:10335800-10357600	Weak transcription	Brain Anterior Caudate	brain
21	chr8:10336200-10350200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:10336600-10337800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:10336800-10337800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:10336800-10337800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:10337000-10338000	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:10337200-10339400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:10337200-10341800	Weak transcription	Lung	lung
28	chr8:10337400-10340000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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