Variant report

Variant	rs11764495
Chromosome Location	chr7:70729787-70729788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10950253	0.96[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs10950254	0.96[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes]
rs10950255	0.96[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes]
rs11765235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769358	0.99[EUR][1000 genomes]
rs11769361	0.99[EUR][1000 genomes]
rs11769394	0.99[EUR][1000 genomes]
rs11769421	0.99[EUR][1000 genomes]
rs17522536	0.96[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.98[TSI][hapmap];0.99[EUR][1000 genomes]
rs1882569	0.82[ASW][hapmap];0.96[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1922509	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1922510	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1922511	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28540223	0.99[EUR][1000 genomes]
rs2867405	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2867406	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4717588	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs55709743	0.99[EUR][1000 genomes]
rs62457833	0.99[EUR][1000 genomes]
rs6974250	0.98[EUR][1000 genomes]
rs7793970	0.96[CEU][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs7795083	0.92[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888343	chr7:70641761-70743033	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1033155	chr7:70712368-70757929	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11764495	WBSCR17	cis	cerebellum	SCAN
rs11764495	SPDYE7P	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70710400-70731800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:70720800-70729800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:70721000-70731800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:70723000-70731600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70727400-70731200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:70727600-70730000	Enhancers	Fetal Heart	heart
7	chr7:70728800-70729800	Enhancers	Right Ventricle	heart
8	chr7:70729200-70733800	Weak transcription	Left Ventricle	heart
9	chr7:70729400-70736200	Weak transcription	Ovary	ovary

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