Variant report

Variant	rs3967019
Chromosome Location	chr13:38738186-38738187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1924192	0.81[AMR][1000 genomes]
rs1924199	0.87[AMR][1000 genomes]
rs2324453	0.81[AMR][1000 genomes]
rs4943563	0.82[AMR][1000 genomes]
rs616106	0.82[AMR][1000 genomes]
rs6563582	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs661497	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7982105	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7992222	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7994361	0.82[AMR][1000 genomes]
rs7995361	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7996113	0.82[AMR][1000 genomes]
rs9532173	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9548183	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9548185	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9548186	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9548188	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9548193	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3967019	FREM2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38736800-38741400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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