Variant report

Variant	rs6969916
Chromosome Location	chr7:119836136-119836137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10224017	0.94[EUR][1000 genomes]
rs10224700	0.98[EUR][1000 genomes]
rs10224809	0.98[EUR][1000 genomes]
rs10488286	1.00[ASW][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap]
rs10953909	1.00[JPT][hapmap]
rs11487122	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760262	0.90[ASN][1000 genomes]
rs11763966	0.90[ASN][1000 genomes]
rs11767260	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11767585	0.81[ASW][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap]
rs11768610	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11769340	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11773232	0.90[ASN][1000 genomes]
rs11982510	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs17142555	0.85[EUR][1000 genomes]
rs17323788	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17374849	0.90[ASN][1000 genomes]
rs17594101	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17594220	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28532220	0.85[EUR][1000 genomes]
rs34850246	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs3735339	0.98[EUR][1000 genomes]
rs3814463	0.89[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs55680276	0.90[ASN][1000 genomes]
rs55963403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56244901	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62469500	0.93[ASN][1000 genomes]
rs62469501	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62469503	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62469505	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62469506	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62469507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62470461	0.90[ASN][1000 genomes]
rs62470532	0.90[ASN][1000 genomes]
rs6466742	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs6942451	0.88[ASN][1000 genomes]
rs6942755	0.88[ASN][1000 genomes]
rs6956408	0.85[EUR][1000 genomes]
rs6956570	0.84[EUR][1000 genomes]
rs6956643	0.97[EUR][1000 genomes]
rs6973947	0.83[EUR][1000 genomes]
rs6978586	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73213448	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73213458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs736612	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7777091	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7778213	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7786492	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7792688	0.98[EUR][1000 genomes]
rs7795487	0.98[EUR][1000 genomes]
rs7800545	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831113	chr7:119683515-119886277	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv608326	chr7:119828331-119995890	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6969916	CADPS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119831200-119842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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