Variant report

Variant	rs8046953
Chromosome Location	chr16:76368714-76368715
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1035531	0.91[CHB][hapmap];0.81[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1035532	0.91[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10492885	1.00[YRI][hapmap]
rs11149892	0.94[EUR][1000 genomes]
rs11149893	0.94[EUR][1000 genomes]
rs11865753	0.95[EUR][1000 genomes]
rs12325009	0.81[CEU][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs12325022	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs12325294	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12325365	0.81[CEU][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs12325498	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12325501	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs12596963	1.00[YRI][hapmap]
rs12597029	0.94[EUR][1000 genomes]
rs13333980	0.96[EUR][1000 genomes]
rs13339408	0.81[CEU][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs1346555	1.00[YRI][hapmap]
rs1346556	1.00[YRI][hapmap]
rs1346557	1.00[ASW][hapmap];0.81[CEU][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs1549660	0.91[CHB][hapmap]
rs1549661	0.91[CHB][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1559329	0.91[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16944192	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16944208	1.00[YRI][hapmap]
rs16944224	1.00[YRI][hapmap]
rs16944225	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs16944228	0.95[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17362336	1.00[YRI][hapmap]
rs17698942	0.88[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17698959	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17698989	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17698995	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17699048	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17766465	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17766542	0.81[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17766584	0.85[ASN][1000 genomes]
rs17766704	1.00[YRI][hapmap]
rs17766740	1.00[YRI][hapmap]
rs17766862	1.00[YRI][hapmap]
rs1964297	0.91[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2115387	0.84[EUR][1000 genomes]
rs2216743	0.86[GIH][hapmap];0.80[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs35538603	0.84[EUR][1000 genomes]
rs4644883	0.91[CHB][hapmap]
rs58799953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59062545	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs59071741	0.95[EUR][1000 genomes]
rs60730550	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61147122	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs61368169	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs7184662	0.85[GIH][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes]
rs7187194	1.00[YRI][hapmap]
rs7204781	0.91[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72626197	0.96[EUR][1000 genomes]
rs72626198	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs72626200	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72626201	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72626202	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72628203	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72628204	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72628206	0.95[EUR][1000 genomes]
rs72628207	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs8044400	0.91[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs8044637	0.90[CHB][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs8045505	1.00[YRI][hapmap]
rs8045699	1.00[YRI][hapmap]
rs8049390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8049902	0.95[EUR][1000 genomes]
rs8058722	0.91[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs9319495	0.91[GIH][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs9924992	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9939553	0.87[ASN][1000 genomes]
rs9939792	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1064607	chr16:75787129-76449101	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1065794	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv542961	chr16:75792288-76434118	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1059162	chr16:75929348-76730816	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv572995	chr16:75935025-76708417	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv572996	chr16:75935025-76735249	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv817220	chr16:75939705-76735383	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1056021	chr16:75955522-76729765	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv542962	chr16:75955522-76729765	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv906935	chr16:76031737-76453110	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv906936	chr16:76031737-76768178	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv817549	chr16:76067068-76582099	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1065644	chr16:76166579-76475634	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv869200	chr16:76227867-76695732	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv833286	chr16:76243730-76444283	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv2763142	chr16:76271660-76461841	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8046953	CNTNAP4	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76342600-76368800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76368400-76369800	Enhancers	Brain Cingulate Gyrus	brain
3	chr16:76368400-76370000	Enhancers	Brain Substantia Nigra	brain
4	chr16:76368600-76369400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr16:76368600-76369600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr16:76368600-76370000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:76368600-76370000	Enhancers	Brain Anterior Caudate	brain
8	chr16:76368600-76370000	Enhancers	Brain Hippocampus Middle	brain

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