Variant report

Variant	rs489716
Chromosome Location	chr11:84141525-84141526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10792755	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs10792756	0.92[CHB][hapmap]
rs10898227	0.91[CHB][hapmap];0.88[JPT][hapmap]
rs1559854	0.92[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap]
rs3914464	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs493437	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4943892	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs4943893	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs505025	0.88[ASN][1000 genomes]
rs518248	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs542988	0.91[CEU][hapmap];0.95[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs567263	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs568789	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs583862	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs610289	0.91[ASN][1000 genomes]
rs6592177	0.89[JPT][hapmap]
rs6592179	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs672796	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs7117729	0.92[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs7118287	0.92[CHB][hapmap]
rs7121832	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs7127845	0.84[ASW][hapmap]
rs7128063	0.92[CHB][hapmap];0.84[CHD][hapmap]
rs7128524	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs7942296	0.92[CHB][hapmap];0.84[CHD][hapmap];0.83[JPT][hapmap]
rs7947614	1.00[ASW][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv1050876	chr11:84128705-84262927	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv541105	chr11:84128705-84262927	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84131600-84141600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:84133000-84148200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:84136000-84141600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:84137400-84141600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:84137600-84141600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:84137600-84141600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:84138000-84141600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:84138000-84141600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:84139000-84148200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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