Variant report

Variant	rs13272616
Chromosome Location	chr8:3216010-3216011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10089434	0.83[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10092967	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10096279	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs10111652	0.94[CEU][hapmap];0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs11136613	0.80[ASN][1000 genomes]
rs11774749	0.82[ASN][1000 genomes]
rs11777777	0.80[ASN][1000 genomes]
rs12675248	0.86[EUR][1000 genomes]
rs12680963	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs12681884	0.85[CHB][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap]
rs12682586	0.86[EUR][1000 genomes]
rs13252012	0.82[EUR][1000 genomes]
rs13256047	0.86[EUR][1000 genomes]
rs13259235	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs13259848	0.82[EUR][1000 genomes]
rs13260434	0.95[CHB][hapmap];0.81[MKK][hapmap];0.81[EUR][1000 genomes]
rs13262663	0.87[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs13266259	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs13266298	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes]
rs13266581	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13266825	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes]
rs13270161	0.88[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.80[LWK][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs13271747	0.84[YRI][hapmap];0.80[ASN][1000 genomes]
rs13272314	0.83[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13273853	0.85[EUR][1000 genomes]
rs13274131	0.94[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs1348268	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1442400	0.85[CHB][hapmap];0.87[GIH][hapmap];0.94[JPT][hapmap]
rs1503282	0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503283	0.83[ASN][1000 genomes]
rs17065905	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs17065933	0.94[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.80[LWK][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs17065934	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17065935	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs17065957	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs17065959	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs17065961	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17065966	0.83[EUR][1000 genomes]
rs17065969	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs17065977	0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs17065979	0.82[EUR][1000 genomes]
rs17065982	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs2406357	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs264308	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs28469508	0.83[EUR][1000 genomes]
rs28652586	0.83[EUR][1000 genomes]
rs34353713	0.86[EUR][1000 genomes]
rs34464184	0.86[EUR][1000 genomes]
rs34615157	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35787098	0.82[EUR][1000 genomes]
rs4457352	0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639539	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4875615	0.82[CHB][hapmap]
rs4875702	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4875703	0.83[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62503467	0.83[EUR][1000 genomes]
rs62503469	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983840	0.94[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs6984292	0.94[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs6984477	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs6984628	0.82[EUR][1000 genomes]
rs6986517	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs6986914	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs7001376	0.94[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs7002678	0.89[CEU][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs71521849	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs963155	0.89[CHB][hapmap]
rs9773092	0.88[ASW][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.83[JPT][hapmap];0.93[LWK][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9773103	0.82[ASN][1000 genomes]
rs9774310	0.87[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9774386	0.83[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9774400	0.87[CEU][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530842	chr8:2292235-3249187	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv868862	chr8:2292235-3250958	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv465340	chr8:2498609-3248652	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv609696	chr8:2498609-3248652	Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1033589	chr8:2498609-3305100	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1016899	chr8:2682086-3235154	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv539347	chr8:2682086-3235154	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1018407	chr8:2724294-3305100	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv915568	chr8:2725834-3291312	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1025408	chr8:2733604-3302447	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1025209	chr8:3067655-3754882	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1026643	chr8:3077210-3277827	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1026998	chr8:3102679-3593264	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv533642	chr8:3104559-3250929	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv1845110	chr8:3154167-3228952	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv889896	chr8:3165777-3262931	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1034076	chr8:3168033-3989947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv539351	chr8:3168033-3989947	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
19	nsv1017164	chr8:3174168-4026811	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv539352	chr8:3174168-4026811	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv1018218	chr8:3180287-4089011	Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv889898	chr8:3203171-3229812	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13272616	KBTBD11	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3215600-3216200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:3215600-3216200	Enhancers	Brain Cingulate Gyrus	brain
3	chr8:3215600-3216800	Enhancers	Fetal Brain Male	brain
4	chr8:3215800-3216200	Flanking Active TSS	Brain Angular Gyrus	brain
5	chr8:3215800-3216200	Active TSS	Brain Anterior Caudate	brain
6	chr8:3215800-3216200	Active TSS	Brain Hippocampus Middle	brain
7	chr8:3215800-3216200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:3215800-3216200	Active TSS	Brain Substantia Nigra	brain
9	chr8:3216000-3216400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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