Variant report

Variant	rs3742728
Chromosome Location	chr14:77951124-77951125
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10145609	0.85[CEU][hapmap]
rs11159268	0.87[CEU][hapmap];0.83[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs12880663	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12884353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887556	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs2017446	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs741853	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8007669	0.96[CEU][hapmap];0.90[EUR][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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3742728	DPF3	cis	cerebellum	SCAN
rs3742728	DLST	cis	parietal	SCAN
rs3742728	EIF2B2	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77945000-77951800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:77947200-77956200	Strong transcription	HepG2	liver
3	chr14:77948800-77953400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:77949000-77951600	Strong transcription	Placenta	Placenta
5	chr14:77949400-77952800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:77949400-77955600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:77950400-77957000	Weak transcription	Fetal Kidney	kidney

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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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