Variant report

Variant	rs2205222
Chromosome Location	chr14:80314162-80314163
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1013449	0.97[EUR][1000 genomes]
rs1013450	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10144662	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs1022433	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1022434	1.00[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11159418	0.97[EUR][1000 genomes]
rs1159038	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs12885142	0.97[EUR][1000 genomes]
rs1997565	0.97[EUR][1000 genomes]
rs1997566	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1997567	0.97[EUR][1000 genomes]
rs2178886	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs2205218	1.00[CEU][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2205220	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2205221	0.88[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2223032	0.86[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2223034	0.97[EUR][1000 genomes]
rs2223035	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.88[EUR][1000 genomes]
rs2293831	0.97[EUR][1000 genomes]
rs2371104	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4243665	0.89[EUR][1000 genomes]
rs4903881	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4903882	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4903883	0.97[EUR][1000 genomes]
rs6574525	1.00[CEU][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes]
rs6574526	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs6574527	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6574528	1.00[CEU][hapmap];0.83[YRI][hapmap]
rs7156557	1.00[CEU][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes]
rs7157705	1.00[CEU][hapmap]
rs7157885	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs727105	0.97[EUR][1000 genomes]
rs727106	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs8003909	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes]
rs8009908	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs8010821	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs8016178	0.97[EUR][1000 genomes]
rs8016336	0.97[EUR][1000 genomes]
rs8017057	0.88[CEU][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs8019381	0.89[MEX][hapmap];0.82[AMR][1000 genomes]
rs8020458	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs932261	0.88[CEU][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.89[EUR][1000 genomes]
rs932262	0.89[EUR][1000 genomes]
rs932263	0.88[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs932264	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs932265	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs959165	0.97[EUR][1000 genomes]
rs980008	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1045558	chr14:80308181-80344592	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2205222	ISM2	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80313400-80314200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr14:80313400-80314200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr14:80313600-80314200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:80313600-80314200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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