Variant report

Variant	rs11718583
Chromosome Location	chr3:54768234-54768235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10865990	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11130432	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17054369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1820616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1882321	1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs1965072	0.91[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs1997463	1.00[CHB][hapmap];0.81[CHD][hapmap];0.81[JPT][hapmap]
rs2360028	0.81[ASN][1000 genomes]
rs488451	0.80[EUR][1000 genomes]
rs492885	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4955890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs510605	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs513324	0.88[GIH][hapmap]
rs525736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs529098	0.88[ASW][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap]
rs530868	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap]
rs533524	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs535526	0.81[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap]
rs541957	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap]
rs543828	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs550728	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562668	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs566448	0.87[CHB][hapmap];0.92[GIH][hapmap]
rs566884	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs568051	0.94[ASW][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs588784	0.81[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs593629	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs599573	0.81[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs601383	0.81[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs601420	0.95[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap]
rs608142	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs622326	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs630987	1.00[CEU][hapmap]
rs634393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs646220	0.85[ASN][1000 genomes]
rs647480	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs652364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs666071	0.81[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs7633762	0.95[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs838017	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs9836012	0.87[ASN][1000 genomes]
rs9882650	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2763268	chr3:54764833-54768234	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54767200-54768400	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:54767400-54770400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr3:54767400-54770600	Enhancers	Brain Germinal Matrix	brain
4	chr3:54768000-54768400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:54768200-54768400	Enhancers	Pancreas	Pancrea
6	chr3:54768200-54768600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:54768200-54768800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:54768200-54768800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:54768200-54769000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:54768200-54769000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:54768200-54769200	Enhancers	H9 Cell Line	embryonic stem cell

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