Variant report

Variant	rs1399308
Chromosome Location	chr13:61603381-61603382
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1514544	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1849757	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73205836	0.85[AFR][1000 genomes]
rs73559809	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990636	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9528285	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832626	chr13:61545191-61698233	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1399308	FAM118A	trans	lymphoblastoid	seeQTL
rs1399308	SHC4	trans	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:61599800-61604200	Weak transcription	Fetal Heart	heart
2	chr13:61602400-61605600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:61602800-61603400	Enhancers	Brain Angular Gyrus	brain
4	chr13:61602800-61603400	Enhancers	Brain Anterior Caudate	brain
5	chr13:61602800-61603400	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:61602800-61603600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:61602800-61603600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr13:61603000-61603400	Enhancers	Brain Substantia Nigra	brain
9	chr13:61603000-61603600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:61603200-61603600	Enhancers	Dnd41	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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