Variant report

Variant	rs8016735
Chromosome Location	chr14:79662626-79662627
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11622061	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs12432016	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432076	0.81[CHB][hapmap]
rs12588070	0.89[CEU][hapmap]
rs12880228	0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[JPT][hapmap]
rs12891595	0.86[CHB][hapmap]
rs17595590	0.84[EUR][1000 genomes]
rs2219848	0.85[CHB][hapmap]
rs2370930	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2370933	0.96[CEU][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes]
rs2370934	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2370935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4636834	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4899736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap]
rs61995405	0.83[AFR][1000 genomes]
rs6574499	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs7151711	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7156245	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs72627190	0.98[ASN][1000 genomes]
rs766023	0.86[CHB][hapmap]
rs8004250	0.92[CEU][hapmap]
rs8006322	0.92[CEU][hapmap];0.95[TSI][hapmap]
rs8007278	0.84[EUR][1000 genomes]
rs8011958	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8015611	1.00[CHB][hapmap];0.91[CHD][hapmap]
rs8017399	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018241	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs8019231	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8019477	0.88[ASW][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap]
rs8021706	0.92[CEU][hapmap]
rs8021953	0.92[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv827002	chr14:79654898-79665722	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a
5	esv2757579	chr14:79658731-79665685	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a
6	esv2760001	chr14:79658731-79665685	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8016735	ANGEL1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79662400-79664200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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