Variant report

Variant	rs4890704
Chromosome Location	chr18:44508980-44508981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10070	0.86[EUR][1000 genomes]
rs10164108	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11659693	0.91[EUR][1000 genomes]
rs11660085	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12386118	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1465722	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1539881	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1970668	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2156049	0.91[EUR][1000 genomes]
rs2187091	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2571000	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2571028	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2576050	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2956975	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs477826	0.88[EUR][1000 genomes]
rs478820	0.88[EUR][1000 genomes]
rs4890343	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890347	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4890698	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890700	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4890706	0.86[EUR][1000 genomes]
rs501062	0.89[EUR][1000 genomes]
rs501882	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs504668	0.89[EUR][1000 genomes]
rs513775	0.88[EUR][1000 genomes]
rs530205	0.84[EUR][1000 genomes]
rs541634	0.90[EUR][1000 genomes]
rs578146	0.88[EUR][1000 genomes]
rs578451	0.87[EUR][1000 genomes]
rs58993513	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs590923	0.87[EUR][1000 genomes]
rs593340	0.90[EUR][1000 genomes]
rs616900	0.89[EUR][1000 genomes]
rs620228	0.86[EUR][1000 genomes]
rs641366	0.90[EUR][1000 genomes]
rs644731	0.90[EUR][1000 genomes]
rs646128	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs680018	0.88[EUR][1000 genomes]
rs693503	0.90[EUR][1000 genomes]
rs8086286	0.91[EUR][1000 genomes]
rs8094654	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8096263	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs892586	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9304336	0.91[EUR][1000 genomes]
rs9916891	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9947131	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9948103	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9948405	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9954336	0.91[EUR][1000 genomes]
rs9959877	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9960463	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9966646	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv576813	chr18:44481641-44531283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1057629	chr18:44500259-44539223	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv1062444	chr18:44503472-44539223	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44508400-44509000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr18:44508400-44509200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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