Variant report

Variant	rs2370933
Chromosome Location	chr14:79652578-79652579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11622061	0.96[CEU][hapmap];0.95[TSI][hapmap]
rs11625020	0.85[YRI][hapmap]
rs11625721	0.86[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap]
rs11625723	0.86[CHB][hapmap];0.92[JPT][hapmap];0.85[YRI][hapmap]
rs12432016	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs12588070	0.92[CEU][hapmap]
rs1531631	0.81[CHD][hapmap]
rs1531632	0.81[CHD][hapmap]
rs1531633	0.81[CHD][hapmap]
rs1531634	0.81[CHD][hapmap]
rs17510215	0.81[CHD][hapmap];0.82[LWK][hapmap];0.85[YRI][hapmap]
rs17595359	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17595590	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2061923	0.83[CHB][hapmap]
rs2370934	0.96[CEU][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs2370935	0.96[CEU][hapmap]
rs3921885	1.00[YRI][hapmap]
rs4636834	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs4899736	0.96[CEU][hapmap];0.95[TSI][hapmap]
rs61992556	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61992557	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61995405	0.92[ASN][1000 genomes]
rs7151711	0.96[CEU][hapmap];0.98[TSI][hapmap]
rs8004250	0.96[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap]
rs8006322	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap]
rs8007278	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8008994	0.91[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[LWK][hapmap];0.80[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8009200	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8009489	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8011043	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8016731	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8016735	0.96[CEU][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes]
rs8017399	0.83[EUR][1000 genomes]
rs8017544	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8018241	0.86[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs8019477	0.81[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8021706	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs8021953	0.96[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]

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	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
2	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
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2370933	ANGEL1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79648000-79652800	Weak transcription	HSMMtube	muscle

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