Variant report

Variant	rs10871322
Chromosome Location	chr16:76433427-76433428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11149895	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11149897	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs11149901	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs12149428	0.84[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12149429	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12716811	0.81[EUR][1000 genomes]
rs12931349	0.83[CEU][hapmap]
rs12934194	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs13333507	0.88[CEU][hapmap];0.94[JPT][hapmap]
rs1395484	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1506819	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1506833	0.88[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs1506834	0.80[CEU][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap]
rs1506835	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs1506836	0.81[GIH][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs1506837	0.86[EUR][1000 genomes]
rs1506839	0.87[EUR][1000 genomes]
rs1506840	0.81[CEU][hapmap];0.89[GIH][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs1995652	0.83[CEU][hapmap];0.93[JPT][hapmap]
rs1995653	0.80[CEU][hapmap];0.94[JPT][hapmap]
rs35267801	0.87[EUR][1000 genomes]
rs4243115	0.84[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4243117	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs4261575	0.88[CEU][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs4302072	0.82[EUR][1000 genomes]
rs4325597	0.81[CEU][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs4384623	0.81[CEU][hapmap]
rs4390622	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs4398133	0.81[EUR][1000 genomes]
rs4433831	0.88[CEU][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs4516260	0.82[EUR][1000 genomes]
rs4572419	0.84[EUR][1000 genomes]
rs4602063	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4620993	0.88[JPT][hapmap]
rs4888495	0.86[EUR][1000 genomes]
rs4888496	0.86[EUR][1000 genomes]
rs4888497	0.88[CEU][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs4888501	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs4888504	0.88[CEU][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs6564334	0.82[EUR][1000 genomes]
rs7185155	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs7185647	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs7188315	0.81[CEU][hapmap]
rs7189200	0.88[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs7191599	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs7192076	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs7203921	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs7206066	0.81[CEU][hapmap]
rs7206342	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs7499417	0.88[CEU][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap]
rs8043542	0.88[CEU][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs8051880	0.81[CEU][hapmap]
rs8062931	0.81[EUR][1000 genomes]
rs968537	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs981231	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap]
rs9921993	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs9931531	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9932045	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9940338	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv906943	chr16:76413757-76768178	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv457537	chr16:76418711-76444353	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv573022	chr16:76418711-76444353	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv457538	chr16:76430527-76453043	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
21	nsv573023	chr16:76430527-76453043	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10871322	CNTNAP4	cis	cerebellum	SCAN
rs10871322	ADAMTS18	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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