Variant report

Variant	rs2620393
Chromosome Location	chr14:79602688-79602689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10137386	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11845182	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs1531621	1.00[YRI][hapmap]
rs1531622	1.00[YRI][hapmap]
rs1531627	1.00[YRI][hapmap]
rs1531628	1.00[YRI][hapmap]
rs1531629	1.00[YRI][hapmap]
rs154430	1.00[MEX][hapmap]
rs2061925	1.00[YRI][hapmap]
rs2127449	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs2127451	1.00[YRI][hapmap]
rs2127452	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2170046	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2199790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2199791	1.00[YRI][hapmap]
rs2202178	1.00[MEX][hapmap]
rs2219847	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2370927	1.00[YRI][hapmap]
rs2620392	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2620394	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2620396	1.00[MEX][hapmap]
rs2653540	1.00[MEX][hapmap]
rs2653544	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653546	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653547	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653548	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653549	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653550	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653551	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653553	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2653554	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2964908	1.00[MEX][hapmap]
rs5023075	1.00[MEX][hapmap]
rs6574489	1.00[MEX][hapmap]
rs6574497	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs7143117	1.00[MEX][hapmap]
rs7148687	1.00[YRI][hapmap]
rs7156708	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014256	1.00[YRI][hapmap]
rs8014331	1.00[YRI][hapmap]
rs8014381	1.00[YRI][hapmap]
rs8014687	1.00[YRI][hapmap]
rs8015420	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs8015502	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs8015623	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv948724	chr14:79484233-79614043	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2761846	chr14:79522198-79629157	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1040837	chr14:79583862-79711565	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2620393	UTS2	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79601000-79602800	Weak transcription	Brain Germinal Matrix	brain
2	chr14:79602400-79603600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr14:79602400-79603800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:79602400-79603800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:79602400-79603800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:79602400-79603800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:79602600-79603000	Enhancers	Brain Cingulate Gyrus	brain

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