Variant report

Variant	rs4700781
Chromosome Location	chr5:178521693-178521694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10057660	0.92[CEU][hapmap]
rs10063310	0.92[CEU][hapmap]
rs10067183	0.92[CEU][hapmap]
rs10068311	0.92[CEU][hapmap]
rs10479519	0.84[ASN][1000 genomes]
rs10479520	0.88[ASN][1000 genomes]
rs10479525	0.92[CEU][hapmap]
rs1049532	0.92[CEU][hapmap]
rs10516149	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs10516150	0.88[ASN][1000 genomes]
rs11505147	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11951738	1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs11957976	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs11958355	0.88[ASN][1000 genomes]
rs11960161	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs12152869	0.88[ASN][1000 genomes]
rs13160086	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13161528	0.88[ASN][1000 genomes]
rs13188724	0.88[ASN][1000 genomes]
rs1562233	0.92[CEU][hapmap]
rs1562234	0.92[CEU][hapmap]
rs17078988	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs17078991	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs2047354	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2132671	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2132672	0.88[ASN][1000 genomes]
rs34054398	0.88[ASN][1000 genomes]
rs34431447	0.90[ASN][1000 genomes]
rs34881171	0.88[ASN][1000 genomes]
rs35568336	0.88[ASN][1000 genomes]
rs3797590	0.84[CEU][hapmap]
rs3797615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3822591	0.88[CEU][hapmap]
rs4700780	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4701030	0.83[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4701032	0.92[CEU][hapmap]
rs4701036	0.92[CEU][hapmap]
rs4701037	0.92[CEU][hapmap]
rs4701038	0.92[CEU][hapmap]
rs4701040	0.92[CEU][hapmap]
rs4701045	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4701048	0.84[CEU][hapmap]
rs58827878	0.83[ASN][1000 genomes]
rs60061283	0.90[ASN][1000 genomes]
rs60073676	0.88[ASN][1000 genomes]
rs62393072	0.84[ASN][1000 genomes]
rs62393074	0.84[ASN][1000 genomes]
rs62393075	0.84[ASN][1000 genomes]
rs62393076	0.84[ASN][1000 genomes]
rs6601007	0.88[ASN][1000 genomes]
rs6601010	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6859576	0.83[ASN][1000 genomes]
rs6859767	0.82[ASN][1000 genomes]
rs6860309	0.88[ASN][1000 genomes]
rs6861539	0.88[ASN][1000 genomes]
rs6867119	0.82[ASN][1000 genomes]
rs6867208	0.86[ASN][1000 genomes]
rs6868893	0.82[ASN][1000 genomes]
rs6875473	0.88[ASN][1000 genomes]
rs6875622	0.88[ASN][1000 genomes]
rs6880315	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs6888539	0.81[JPT][hapmap]
rs6888567	0.81[JPT][hapmap]
rs6890317	0.84[ASN][1000 genomes]
rs6891216	0.80[JPT][hapmap]
rs7707587	0.88[ASN][1000 genomes]
rs7708743	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7709054	0.88[ASN][1000 genomes]
rs7711420	0.95[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs7732719	0.88[ASN][1000 genomes]
rs7733072	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs9687070	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1026351	chr5:178429975-178535309	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1021642	chr5:178495775-178535309	ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1026790	chr5:178511268-178687428	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4700781	DKFZp686E2433	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178517000-178523000	Weak transcription	HSMM	muscle
2	chr5:178518200-178528200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:178518400-178528000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:178518600-178528400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr5:178518800-178528200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:178518800-178528200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:178518800-178528400	ZNF genes & repeats	Liver	Liver
8	chr5:178520400-178525400	ZNF genes & repeats	Fetal Lung	lung
9	chr5:178520400-178525600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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