Variant report

Variant	rs2223035
Chromosome Location	chr14:80305735-80305736
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1013449	0.85[EUR][1000 genomes]
rs1013450	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10144662	0.88[CEU][hapmap]
rs10220538	0.88[GIH][hapmap]
rs1022433	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1022434	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs11159418	0.85[EUR][1000 genomes]
rs1159038	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs12885142	0.85[EUR][1000 genomes]
rs1997565	0.85[EUR][1000 genomes]
rs1997566	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1997567	0.85[EUR][1000 genomes]
rs2178886	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2205218	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2205220	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2205221	0.88[CEU][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs2205222	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.88[EUR][1000 genomes]
rs2223032	0.86[CEU][hapmap]
rs2223034	0.85[EUR][1000 genomes]
rs2293831	0.85[EUR][1000 genomes]
rs2371104	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4903881	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4903882	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs4903883	0.85[EUR][1000 genomes]
rs6574525	1.00[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs6574526	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6574527	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6574528	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7156557	1.00[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs7157705	1.00[CEU][hapmap]
rs7157885	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs727105	0.85[EUR][1000 genomes]
rs727106	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8003909	1.00[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs8009908	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8010821	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8016178	0.85[EUR][1000 genomes]
rs8016336	0.85[EUR][1000 genomes]
rs8017057	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs8019381	0.90[MEX][hapmap]
rs8020458	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs932261	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs932263	0.88[CEU][hapmap]
rs932264	0.88[CEU][hapmap]
rs932265	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs959165	0.85[EUR][1000 genomes]
rs980008	0.80[YRI][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2223035	ISM2	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80302600-80307600	Weak transcription	Brain Substantia Nigra	brain
2	chr14:80303200-80308000	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:80303200-80308400	Weak transcription	NH-A	brain
4	chr14:80303400-80306200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:80303400-80306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:80303400-80308200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:80303400-80308400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:80303400-80308400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:80303400-80308400	Weak transcription	Osteobl	bone
10	chr14:80304800-80306400	Weak transcription	Liver	Liver

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