Variant report

Variant	rs808332
Chromosome Location	chr10:116498910-116498911
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10885595	0.91[CHB][hapmap]
rs10885600	0.80[ASN][1000 genomes]
rs10885601	0.98[ASN][1000 genomes]
rs10885602	0.81[ASN][1000 genomes]
rs10885603	0.94[ASN][1000 genomes]
rs10885606	0.83[ASN][1000 genomes]
rs11196864	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs11196865	0.83[CHB][hapmap]
rs11196872	0.90[CHB][hapmap]
rs11196874	0.91[CHB][hapmap]
rs11196875	0.91[CHB][hapmap]
rs11196903	0.87[ASN][1000 genomes]
rs11196904	0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11196905	0.84[CHD][hapmap]
rs12098336	0.81[ASN][1000 genomes]
rs12220314	0.83[ASN][1000 genomes]
rs2420064	0.82[ASN][1000 genomes]
rs34253301	0.82[ASN][1000 genomes]
rs34621187	0.83[ASN][1000 genomes]
rs36007276	0.81[ASN][1000 genomes]
rs61869110	0.83[ASN][1000 genomes]
rs67774070	0.83[ASN][1000 genomes]
rs703348	0.80[EUR][1000 genomes]
rs703349	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7075935	0.91[CHB][hapmap]
rs7077074	0.83[ASN][1000 genomes]
rs7080397	0.87[ASN][1000 genomes]
rs7082487	0.83[ASN][1000 genomes]
rs7095432	0.83[ASN][1000 genomes]
rs7908984	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7912645	0.82[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs808251	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs808259	0.80[EUR][1000 genomes]
rs808263	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs808291	0.81[ASN][1000 genomes]
rs808294	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs808295	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs808296	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs808298	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs808299	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs808301	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs808305	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs808306	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs808307	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs808314	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs808322	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808339	0.96[EUR][1000 genomes]
rs808340	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808342	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808344	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs808346	0.95[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs808350	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808351	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs808352	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs808353	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs808355	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs808357	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs882870	0.91[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3435429	chr10:116394152-117006347	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1042170	chr10:116455043-116504871	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1046888	chr10:116455043-116505640	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs808332	AFAP1L2	cis	cerebellum	SCAN
rs808332	PNLIP	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116486800-116514600	Weak transcription	Pancreas	Pancrea
2	chr10:116494400-116508200	Weak transcription	Right Atrium	heart
3	chr10:116494800-116503000	Weak transcription	Fetal Heart	heart
4	chr10:116497400-116507000	Weak transcription	Right Ventricle	heart
5	chr10:116498200-116503400	Weak transcription	Left Ventricle	heart
6	chr10:116498600-116499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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