Variant report

Variant	rs4512404
Chromosome Location	chr8:119579349-119579350
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10090978	1.00[JPT][hapmap]
rs10095856	1.00[JPT][hapmap]
rs10505340	1.00[JPT][hapmap]
rs10505341	1.00[JPT][hapmap]
rs10505343	0.82[LWK][hapmap]
rs17682473	1.00[JPT][hapmap]
rs17749697	1.00[JPT][hapmap]
rs17756861	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2030454	1.00[JPT][hapmap]
rs2514593	1.00[JPT][hapmap]
rs41423651	1.00[JPT][hapmap]
rs4641102	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7817162	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer 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	5 gene(s)	inside rSNPs	diseases
4	nsv6362	chr8:119554736-119599269	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4512404	C8orf85	cis	parietal	SCAN
rs4512404	C8orf85	cis	cerebellum	SCAN
rs4512404	MAL2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119568600-119579600	Weak transcription	Fetal Lung	lung
2	chr8:119571600-119583200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:119574000-119579400	Weak transcription	Thymus	Thymus
4	chr8:119574400-119579800	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:119575800-119583200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr8:119575800-119584400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:119576200-119583800	Weak transcription	Lung	lung
8	chr8:119576600-119580000	Flanking Active TSS	GM12878-XiMat	blood
9	chr8:119577400-119579600	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:119577600-119579400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:119577800-119579400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:119577800-119579600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:119577800-119579800	Weak transcription	Right Atrium	heart
14	chr8:119577800-119580200	Weak transcription	Left Ventricle	heart
15	chr8:119578000-119579800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:119578800-119580000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:119578800-119580800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:119579000-119580600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:119579200-119579400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:119579200-119579400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:119579200-119580000	Enhancers	Adipose Nuclei	Adipose
22	chr8:119579200-119580200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:119579200-119580600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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