Variant report

Variant	rs500750
Chromosome Location	chr11:84124350-84124351
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501559	0.88[CHB][hapmap];0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs17508652	0.88[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs17808062	0.83[GIH][hapmap]
rs2016830	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs3906479	0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs4310638	0.88[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs4636699	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs488925	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs4944487	0.82[ASN][1000 genomes]
rs504196	0.88[CHB][hapmap];0.82[CHD][hapmap]
rs510323	0.86[AFR][1000 genomes]
rs517540	0.93[ASN][1000 genomes]
rs542988	1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs543814	0.82[ASW][hapmap];0.81[YRI][hapmap]
rs606277	0.94[ASN][1000 genomes]
rs61897664	0.84[ASN][1000 genomes]
rs61897674	0.93[ASN][1000 genomes]
rs6592176	0.88[CHB][hapmap];0.88[CHD][hapmap];0.82[JPT][hapmap]
rs672796	0.91[CEU][hapmap];0.89[GIH][hapmap]
rs684067	1.00[CEU][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7115400	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs7127845	0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1038641	chr11:83996453-84334045	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541103	chr11:83996453-84334045	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv898031	chr11:84060342-84379671	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1047030	chr11:84067493-84187274	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1041755	chr11:84067493-84315623	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv541104	chr11:84067493-84315623	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv817504	chr11:84070883-84301151	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1052925	chr11:84092727-84274689	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr11:84120200-84132800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:84120600-84124400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:84123600-84124400	Enhancers	Brain Anterior Caudate	brain
4	chr11:84124200-84124600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:84124200-84125200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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