Variant report

Variant	rs2400286
Chromosome Location	chr5:146640033-146640034
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10058805	1.00[ASN][1000 genomes]
rs10059785	0.96[ASN][1000 genomes]
rs10059845	0.98[ASN][1000 genomes]
rs10060001	0.98[ASN][1000 genomes]
rs10077015	1.00[ASN][1000 genomes]
rs11741699	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11742389	1.00[ASN][1000 genomes]
rs11750287	0.86[ASN][1000 genomes]
rs12186725	1.00[ASN][1000 genomes]
rs12187523	1.00[ASN][1000 genomes]
rs12187544	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13160246	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13190267	0.82[ASN][1000 genomes]
rs1432649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17106345	0.98[ASN][1000 genomes]
rs1835908	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1835909	0.90[ASN][1000 genomes]
rs2400287	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2400288	1.00[ASN][1000 genomes]
rs2400289	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2400290	1.00[ASN][1000 genomes]
rs2895678	1.00[ASN][1000 genomes]
rs2895679	0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs34008203	0.87[ASN][1000 genomes]
rs34013186	1.00[ASN][1000 genomes]
rs34047526	1.00[ASN][1000 genomes]
rs34390085	1.00[ASN][1000 genomes]
rs34584308	0.94[ASN][1000 genomes]
rs35011974	1.00[ASN][1000 genomes]
rs35206295	1.00[ASN][1000 genomes]
rs35294904	0.80[ASN][1000 genomes]
rs35416734	1.00[ASN][1000 genomes]
rs35469676	1.00[ASN][1000 genomes]
rs36088388	0.90[ASN][1000 genomes]
rs4535507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4546437	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4629642	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4705031	0.95[ASN][1000 genomes]
rs4705032	0.98[ASN][1000 genomes]
rs4705033	0.98[ASN][1000 genomes]
rs4705034	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4705035	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4705143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4705144	0.95[ASN][1000 genomes]
rs4705145	0.98[ASN][1000 genomes]
rs4705146	0.99[ASN][1000 genomes]
rs4705148	0.96[ASN][1000 genomes]
rs4705149	1.00[ASN][1000 genomes]
rs4705151	0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs4705152	0.95[ASN][1000 genomes]
rs4705153	0.98[ASN][1000 genomes]
rs66508382	1.00[ASN][1000 genomes]
rs67886442	1.00[ASN][1000 genomes]
rs6868694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6870188	1.00[ASN][1000 genomes]
rs6870193	1.00[ASN][1000 genomes]
rs6870527	1.00[ASN][1000 genomes]
rs6871193	0.84[JPT][hapmap];1.00[ASN][1000 genomes]
rs6871364	1.00[ASN][1000 genomes]
rs6886891	0.98[ASN][1000 genomes]
rs6890448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6891682	1.00[ASN][1000 genomes]
rs6891890	1.00[ASN][1000 genomes]
rs6895610	1.00[ASN][1000 genomes]
rs6898321	1.00[ASN][1000 genomes]
rs71580432	1.00[ASN][1000 genomes]
rs7701791	0.86[JPT][hapmap]

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	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3411143	chr5:146639214-146640140	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146622200-146640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:146628600-146659200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:146639200-146642800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:146640000-146640200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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