Variant report

Variant	rs3783948
Chromosome Location	chr14:81449363-81449364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81443218..81445707-chr14:81448649..81450326,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN3-4	chr14:81448332-81449982	NONHSAT038046

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10136404	0.84[CEU][hapmap];0.82[MEX][hapmap];0.82[EUR][1000 genomes]
rs10145099	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1023586	0.94[ASN][1000 genomes]
rs1025253	0.81[CEU][hapmap]
rs1035144	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs11159479	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11623416	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs12101255	0.96[ASN][1000 genomes]
rs12101261	0.96[ASN][1000 genomes]
rs12892825	0.81[CEU][hapmap]
rs12895801	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs17111270	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs17111346	0.96[ASN][1000 genomes]
rs17111365	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs179255	0.80[ASN][1000 genomes]
rs179262	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs179263	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2114703	0.81[CEU][hapmap]
rs2160215	0.94[ASN][1000 genomes]
rs2215981	0.84[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2217176	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs2268459	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2284726	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2300516	1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[ASN][1000 genomes]
rs2371457	0.81[CEU][hapmap]
rs2371462	0.82[ASW][hapmap];0.88[CEU][hapmap];0.91[CHD][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2371463	0.96[ASN][1000 genomes]
rs28414437	0.85[ASN][1000 genomes]
rs2888046	0.81[JPT][hapmap]
rs3742721	0.81[CEU][hapmap]
rs3742722	0.81[CEU][hapmap]
rs3783943	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3783947	0.88[ASN][1000 genomes]
rs3783949	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3783950	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4411444	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs4899782	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs4899783	0.82[EUR][1000 genomes]
rs4903948	0.81[CEU][hapmap];0.82[MEX][hapmap]
rs4903954	0.83[JPT][hapmap]
rs4903961	0.94[ASN][1000 genomes]
rs56389234	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574613	0.81[CEU][hapmap]
rs6574617	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67065081	0.81[EUR][1000 genomes]
rs724170	0.96[ASN][1000 genomes]
rs8003061	0.96[ASN][1000 genomes]
rs8003515	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs8009120	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8016601	0.81[CEU][hapmap]
rs8022411	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3783948	ERN1	trans	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81447000-81451000	Genic enhancers	Dnd41	blood
2	chr14:81448000-81453400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:81448000-81453400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:81448600-81449400	Enhancers	Fetal Thymus	thymus
5	chr14:81449200-81452600	Enhancers	Thymus	Thymus

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