Variant report

Variant	rs7777578
Chromosome Location	chr7:145676882-145676883
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10224933	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10454319	0.86[ASN][1000 genomes]
rs10952638	0.83[ASN][1000 genomes]
rs11765533	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11972088	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11975168	0.87[ASN][1000 genomes]
rs11976392	0.95[ASN][1000 genomes]
rs12670944	0.86[ASN][1000 genomes]
rs12670972	0.86[ASN][1000 genomes]
rs12672708	0.86[ASN][1000 genomes]
rs17169921	0.88[ASN][1000 genomes]
rs34005014	0.86[ASN][1000 genomes]
rs34125020	0.87[ASN][1000 genomes]
rs34288280	0.86[ASN][1000 genomes]
rs34456214	0.87[ASN][1000 genomes]
rs35586102	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4726775	0.84[ASN][1000 genomes]
rs55974735	0.87[ASN][1000 genomes]
rs56009897	0.86[ASN][1000 genomes]
rs58863010	0.87[ASN][1000 genomes]
rs62503367	0.87[ASN][1000 genomes]
rs6464708	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs67904872	0.86[ASN][1000 genomes]
rs6943389	0.87[ASN][1000 genomes]
rs6957251	0.86[ASN][1000 genomes]
rs6965855	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6976183	0.86[ASN][1000 genomes]
rs6976666	0.86[ASN][1000 genomes]
rs7777268	0.87[ASN][1000 genomes]
rs7779212	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780753	0.81[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];0.82[JPT][hapmap];0.97[TSI][hapmap];0.86[ASN][1000 genomes]
rs7787529	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7803306	0.86[ASN][1000 genomes]
rs9655683	0.80[LWK][hapmap];0.89[YRI][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	esv2754040	chr7:145303352-145698352	Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2755386	chr7:145303352-145698352	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv889384	chr7:145541783-146239545	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023861	chr7:145606069-145910049	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv539170	chr7:145606069-145910049	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv889385	chr7:145617629-145803095	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7777578	CNTNAP2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145676800-145682600	Weak transcription	K562	blood

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