Variant report

Variant	rs4365213
Chromosome Location	chr14:64720264-64720265
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12435857	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1256061	0.88[CEU][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap]
rs13329021	0.81[ASN][1000 genomes]
rs17766755	0.82[ASW][hapmap];0.92[GIH][hapmap];0.81[MKK][hapmap];0.80[TSI][hapmap]
rs4986938	0.86[GIH][hapmap]
rs61984409	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6573549	1.00[ASW][hapmap];0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146434	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7156924	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv1794316	chr14:64717748-64730868	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4365213	RAB15	cis	parietal	SCAN
rs4365213	SYNE2	cis	parietal	SCAN
rs4365213	ESR2	cis	Skin Sun Exposed Lower leg	GTEx
rs4365213	MTHFD1	cis	parietal	SCAN
rs4365213	SYNE2	cis	multi-tissue	Pritchard
rs4365213	ESR2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64713000-64723800	Weak transcription	Thymus	Thymus
2	chr14:64716200-64722000	Weak transcription	Fetal Lung	lung
3	chr14:64716400-64733000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:64717600-64724000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:64718000-64722000	Weak transcription	Ovary	ovary
6	chr14:64720000-64720400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:64720200-64720400	Enhancers	NH-A	brain
8	chr14:64720200-64720600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:64720200-64721000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:64720200-64721200	Enhancers	HUVEC	blood vessel

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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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