Variant report

Variant	rs170407
Chromosome Location	chr14:80631437-80631438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10133463	0.82[EUR][1000 genomes]
rs10140980	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10144099	0.87[CEU][hapmap]
rs1388378	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs1491488	0.88[ASN][1000 genomes]
rs170408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110368	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17110449	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs1907526	0.82[EUR][1000 genomes]
rs224969	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs224996	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs224997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs224999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225001	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267872	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs28607034	0.85[EUR][1000 genomes]
rs28883971	0.81[EUR][1000 genomes]
rs54566	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56033314	0.87[EUR][1000 genomes]
rs6574551	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs7140952	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs7145153	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7145584	0.81[EUR][1000 genomes]
rs7146189	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs7152836	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154177	0.87[CEU][hapmap]
rs7154898	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs7159642	0.87[CEU][hapmap]
rs7160310	0.85[CEU][hapmap]
rs8009555	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs9652301	0.82[EUR][1000 genomes]
rs9972105	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs9972275	0.87[CEU][hapmap];0.82[EUR][1000 genomes]

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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs170407	NRXN3	cis	parietal	SCAN
rs170407	C14orf118	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80630400-80632600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:80630800-80632200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr14:80631200-80631600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:80631200-80631800	Enhancers	NH-A	brain
5	chr14:80631400-80631600	Enhancers	HMEC	breast
6	chr14:80631400-80631800	Enhancers	NHEK	skin
7	chr14:80631400-80632200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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