Variant report

Variant	rs17164819
Chromosome Location	chr7:11619123-11619124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10243109	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1034740	0.88[CHB][hapmap];0.97[CHD][hapmap];0.82[ASN][1000 genomes]
rs10486152	0.83[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11766195	0.81[EUR][1000 genomes]
rs11769538	1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[JPT][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs11977973	0.87[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17149872	0.81[ASN][1000 genomes]
rs17164813	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2189638	0.82[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2189639	0.95[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56074516	0.90[ASN][1000 genomes]
rs56094756	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58924073	0.82[ASN][1000 genomes]
rs59605847	0.90[ASN][1000 genomes]
rs6949833	0.81[CEU][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs6962022	0.88[CHB][hapmap]
rs73057902	0.90[ASN][1000 genomes]
rs7778918	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7779528	1.00[CEU][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs7784729	0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7785106	0.87[ASN][1000 genomes]
rs7789441	0.98[ASN][1000 genomes]
rs7808317	0.88[CHB][hapmap];0.89[CHD][hapmap]

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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11617000-11619200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr7:11617200-11619200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:11617600-11634000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:11618400-11619200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr7:11619000-11634400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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