Variant report

Variant	rs11804470
Chromosome Location	chr1:216596330-216596331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12022815	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12024013	1.00[CHB][hapmap]
rs12025020	0.82[JPT][hapmap]
rs12029697	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12030105	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12030122	1.00[CHB][hapmap]
rs12036065	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12039789	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12041679	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12041888	1.00[CHB][hapmap]
rs12042600	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12043064	1.00[CHB][hapmap]
rs12043533	1.00[CHB][hapmap]
rs12045821	1.00[CHB][hapmap]
rs12406261	0.92[EUR][1000 genomes]
rs17026652	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs55930519	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55931392	1.00[EUR][1000 genomes]
rs57046342	0.83[EUR][1000 genomes]
rs60458400	1.00[ASN][1000 genomes]
rs61438395	0.92[EUR][1000 genomes]
rs6682779	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102524	1.00[ASN][1000 genomes]
rs73102586	1.00[ASN][1000 genomes]
rs73102592	1.00[ASN][1000 genomes]
rs73102593	1.00[ASN][1000 genomes]
rs73102595	1.00[ASN][1000 genomes]
rs74141591	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv523863	chr1:216517635-216629416	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216595400-216596400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:216596000-216599000	Weak transcription	Liver	Liver
3	chr1:216596200-216596400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:216596200-216597000	Active TSS	Pancreatic Islets	Pancreatic Islet

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