Variant report

Variant	rs11976743
Chromosome Location	chr7:11621390-11621391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10275517	0.83[CEU][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes]
rs15	0.83[CEU][hapmap];0.92[AMR][1000 genomes]
rs20	0.83[CEU][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes]
rs2189636	0.89[EUR][1000 genomes]
rs2189640	0.92[AMR][1000 genomes]
rs2214588	0.88[AMR][1000 genomes]
rs2354963	0.83[CEU][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.85[AMR][1000 genomes]
rs31	0.92[AMR][1000 genomes]
rs33	0.82[CEU][hapmap];0.92[AMR][1000 genomes]
rs34	0.93[CEU][hapmap];0.92[AMR][1000 genomes]
rs47	0.82[ASW][hapmap];0.87[MKK][hapmap]
rs60	0.94[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs68	0.82[CEU][hapmap];0.92[AMR][1000 genomes]
rs69	0.86[CEU][hapmap];0.92[AMR][1000 genomes]
rs6974688	0.86[CEU][hapmap]
rs70	0.81[CEU][hapmap];0.92[AMR][1000 genomes]
rs7780359	0.92[AMR][1000 genomes]
rs79	0.88[AMR][1000 genomes]
rs80	0.83[CEU][hapmap];0.92[AMR][1000 genomes]
rs82	0.89[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes]
rs929301	0.84[CEU][hapmap];0.83[CHD][hapmap];0.86[JPT][hapmap];0.97[TSI][hapmap];0.89[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	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11976743	NES	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11617600-11634000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:11619000-11634400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:11619200-11633400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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