Variant report

Variant	rs2380447
Chromosome Location	chr8:69070174-69070175
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35746610	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4471021	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825160	0.93[ASW][hapmap];0.95[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828816	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	esv3331644	chr8:68806705-69189171	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1792589	chr8:69066748-69085741	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2380447	C8orf46	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69020000-69082600	Weak transcription	Fetal Stomach	stomach
2	chr8:69043600-69107000	Weak transcription	Brain Substantia Nigra	brain
3	chr8:69046600-69083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:69046800-69070800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:69052600-69104600	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:69055800-69070800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:69061800-69074000	Weak transcription	Adipose Nuclei	Adipose
8	chr8:69065200-69074000	Weak transcription	Left Ventricle	heart
9	chr8:69065600-69070600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:69067000-69082600	Weak transcription	Brain Anterior Caudate	brain
11	chr8:69067200-69070600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:69067200-69070600	Weak transcription	HUVEC	blood vessel
13	chr8:69067200-69074800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:69067400-69070400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:69068200-69076400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:69068600-69087200	Weak transcription	Lung	lung
17	chr8:69068800-69075000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:69068800-69075600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr8:69069200-69070200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:69069800-69074400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr8:69069800-69075200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr8:69070000-69070800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:69070000-69075200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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