Variant report

Variant	rs4701045
Chromosome Location	chr5:178526930-178526931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10479519	0.84[ASN][1000 genomes]
rs10479520	0.88[ASN][1000 genomes]
rs10516149	0.83[ASN][1000 genomes]
rs10516150	0.88[ASN][1000 genomes]
rs11505147	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11951738	0.89[ASN][1000 genomes]
rs11957976	0.87[ASN][1000 genomes]
rs11958355	0.88[ASN][1000 genomes]
rs11960161	0.88[ASN][1000 genomes]
rs12152869	0.88[ASN][1000 genomes]
rs13160086	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13161528	0.88[ASN][1000 genomes]
rs13188724	0.88[ASN][1000 genomes]
rs17078988	0.88[ASN][1000 genomes]
rs17078991	0.88[ASN][1000 genomes]
rs2047354	0.88[ASN][1000 genomes]
rs2132671	0.88[ASN][1000 genomes]
rs2132672	0.88[ASN][1000 genomes]
rs34054398	0.88[ASN][1000 genomes]
rs34431447	0.89[ASN][1000 genomes]
rs34881171	0.88[ASN][1000 genomes]
rs35568336	0.88[ASN][1000 genomes]
rs3797615	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4700780	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4700781	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4701030	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58827878	0.82[ASN][1000 genomes]
rs60061283	0.90[ASN][1000 genomes]
rs60073676	0.87[ASN][1000 genomes]
rs62393072	0.83[ASN][1000 genomes]
rs62393074	0.83[ASN][1000 genomes]
rs62393075	0.84[ASN][1000 genomes]
rs62393076	0.84[ASN][1000 genomes]
rs6601007	0.88[ASN][1000 genomes]
rs6601010	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6859576	0.82[ASN][1000 genomes]
rs6859767	0.81[ASN][1000 genomes]
rs6860309	0.88[ASN][1000 genomes]
rs6861539	0.88[ASN][1000 genomes]
rs6867119	0.81[ASN][1000 genomes]
rs6867208	0.85[ASN][1000 genomes]
rs6868893	0.81[ASN][1000 genomes]
rs6875473	0.88[ASN][1000 genomes]
rs6875622	0.88[ASN][1000 genomes]
rs6880315	0.88[ASN][1000 genomes]
rs6890317	0.84[ASN][1000 genomes]
rs7707587	0.88[ASN][1000 genomes]
rs7708743	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709054	0.88[ASN][1000 genomes]
rs7711420	0.87[ASN][1000 genomes]
rs7732719	0.88[ASN][1000 genomes]
rs7733072	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv482352	chr5:178525060-178697496	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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
rs4701045	DKFZp686E2433	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178518200-178528200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:178518400-178528000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:178518600-178528400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr5:178518800-178528200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:178518800-178528200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:178518800-178528400	ZNF genes & repeats	Liver	Liver
7	chr5:178523000-178528000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:178523600-178538400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:178524000-178527200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:178524200-178538000	Weak transcription	Osteobl	bone
11	chr5:178525400-178527000	Weak transcription	HSMMtube	muscle
12	chr5:178525600-178527000	Weak transcription	Ovary	ovary
13	chr5:178526600-178527400	ZNF genes & repeats	Fetal Lung	lung
14	chr5:178526600-178528400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr5:178526800-178528000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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