Variant report

Variant	rs515887
Chromosome Location	chr5:152892800-152892801
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12521322	1.00[ASN][1000 genomes]
rs34082276	1.00[ASN][1000 genomes]
rs472792	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs524905	0.81[AFR][1000 genomes]
rs548916	0.81[AFR][1000 genomes]
rs71588087	1.00[ASN][1000 genomes]
rs71588089	1.00[ASN][1000 genomes]
rs71588090	1.00[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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1019051	chr5:152550863-153057896	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868912	chr5:152582002-153095306	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs515887	MFAP3	cis	cerebellum	SCAN
rs515887	RPS14	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152876800-152896000	Weak transcription	Brain Anterior Caudate	brain
2	chr5:152885800-152900000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:152885800-152900600	Weak transcription	Aorta	Aorta
4	chr5:152886200-152896000	Weak transcription	Fetal Brain Female	brain
5	chr5:152890800-152895800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:152891000-152896000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:152891600-152893000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:152891800-152892800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:152891800-152896000	Weak transcription	Brain Germinal Matrix	brain
10	chr5:152892000-152897000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:152892200-152892800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:152892200-152893000	Enhancers	HSMMtube	muscle
13	chr5:152892200-152894000	Weak transcription	Fetal Brain Male	brain
14	chr5:152892400-152893400	Enhancers	NHDF-Ad	bronchial
15	chr5:152892400-152893800	Enhancers	HSMM	muscle
16	chr5:152892400-152897600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:152892600-152893000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:152892600-152893200	Enhancers	Fetal Heart	heart
19	chr5:152892600-152899800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:152892800-152893200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:152892800-152895400	Enhancers	NHLF	lung
22	chr5:152892800-152896000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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