Variant report

Variant	rs850533
Chromosome Location	chr7:145416393-145416394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1100712	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1100717	0.92[CEU][hapmap];0.95[GIH][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6970702	0.92[ASN][1000 genomes]
rs721723	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs721724	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs850545	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs850550	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs850551	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs850552	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs850554	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs850555	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs850557	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs850559	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs850560	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs850561	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs850565	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs850566	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831180	chr7:145263906-145425845	ZNF genes & repeats Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv889383	chr7:145396141-145549570	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv831182	chr7:145399806-145556489	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs850533	CNTNAP2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145416000-145416400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:145416000-145417400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:145416000-145417400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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Input of quick search could be:

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

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