Variant report

Variant	rs2043388
Chromosome Location	chr4:21063825-21063826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10014546	0.94[ASN][1000 genomes]
rs10022535	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10032561	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs10805223	0.83[JPT][hapmap]
rs10938824	0.84[JPT][hapmap]
rs10938827	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap]
rs10938831	0.86[EUR][1000 genomes]
rs11935122	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11944165	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11945600	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11945646	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11945692	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12510687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12640491	0.81[CEU][hapmap];0.87[CHB][hapmap]
rs12644882	0.87[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs12644941	0.87[JPT][hapmap]
rs12645002	0.83[JPT][hapmap]
rs12647437	0.87[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs17574283	0.91[ASN][1000 genomes]
rs17636197	0.81[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap]
rs17637027	0.81[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap]
rs2043387	1.00[ASN][1000 genomes]
rs2163933	0.81[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap]
rs2163934	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs28406534	1.00[ASN][1000 genomes]
rs4574407	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs4599408	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4615170	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55737345	0.85[ASN][1000 genomes]
rs55885656	0.88[ASN][1000 genomes]
rs56025335	0.86[ASN][1000 genomes]
rs56139613	0.86[ASN][1000 genomes]
rs56412118	0.91[ASN][1000 genomes]
rs6810466	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6810897	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6815915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6817687	1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6818751	0.84[JPT][hapmap]
rs6819439	0.84[JPT][hapmap]
rs6832569	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6832607	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6840528	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6845231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6853609	0.84[JPT][hapmap]
rs6854888	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6855710	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6858766	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap]
rs720852	0.81[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs720853	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]
rs7658908	0.86[EUR][1000 genomes]
rs9997060	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv829878	chr4:20966047-21138626	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv878745	chr4:21054348-21155716	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv878746	chr4:21054348-21169062	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv878747	chr4:21057794-21169062	Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21063400-21065800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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