Variant report

Variant	rs2217889
Chromosome Location	chr14:79952325-79952326
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79952202..79952971-chr8:128747799..128748754,2	NB4	blood:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10130663	0.83[EUR][1000 genomes]
rs10144362	0.89[EUR][1000 genomes]
rs10150805	0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs1080128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1080129	0.90[EUR][1000 genomes]
rs11845632	0.85[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs11848580	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs11848640	0.87[EUR][1000 genomes]
rs11849345	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849360	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11850075	0.95[EUR][1000 genomes]
rs11850956	0.96[CEU][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs12893284	0.82[ASN][1000 genomes]
rs17109292	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17109313	0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs17763953	0.92[CEU][hapmap];0.84[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs2043585	0.81[CEU][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs35879888	0.88[EUR][1000 genomes]
rs4566079	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.89[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs56111431	0.85[EUR][1000 genomes]
rs61504574	0.85[EUR][1000 genomes]
rs61995170	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61995180	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150181	0.85[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs7151972	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs74070249	0.95[ASN][1000 genomes]
rs8017761	0.85[CEU][hapmap]
rs8020593	0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs9323673	0.87[TSI][hapmap];0.85[EUR][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	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2217889	LTBP2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79950600-79954000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:79950800-79953600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:79952200-79953600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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