Variant report

Variant	rs387460
Chromosome Location	chr4:69613721-69613722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10017727	1.00[ASN][1000 genomes]
rs12500065	0.93[EUR][1000 genomes]
rs1355806	0.97[EUR][1000 genomes]
rs1670747	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs167139	0.95[ASN][1000 genomes]
rs1828697	0.97[EUR][1000 genomes]
rs1828704	1.00[ASN][1000 genomes]
rs1828705	1.00[ASN][1000 genomes]
rs1828706	1.00[ASN][1000 genomes]
rs1828707	1.00[ASN][1000 genomes]
rs1877609	1.00[ASN][1000 genomes]
rs1877610	1.00[ASN][1000 genomes]
rs1877611	1.00[ASN][1000 genomes]
rs1913322	0.97[EUR][1000 genomes]
rs1913323	1.00[ASN][1000 genomes]
rs1968764	0.82[EUR][1000 genomes]
rs2090000	0.96[EUR][1000 genomes]
rs28836845	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs293404	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs293405	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3100643	0.95[ASN][1000 genomes]
rs3100644	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3100652	0.95[ASN][1000 genomes]
rs3100653	0.98[ASN][1000 genomes]
rs3113331	0.98[EUR][1000 genomes]
rs3113332	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34355592	0.93[EUR][1000 genomes]
rs35345766	0.97[EUR][1000 genomes]
rs364616	1.00[ASN][1000 genomes]
rs372723	0.98[ASN][1000 genomes]
rs374041	0.97[ASN][1000 genomes]
rs377586	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs380168	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs381060	1.00[ASN][1000 genomes]
rs384038	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs385121	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs387611	1.00[ASN][1000 genomes]
rs389715	1.00[ASN][1000 genomes]
rs390624	1.00[ASN][1000 genomes]
rs390650	1.00[ASN][1000 genomes]
rs392779	1.00[ASN][1000 genomes]
rs393038	1.00[ASN][1000 genomes]
rs3934038	0.97[EUR][1000 genomes]
rs395918	0.95[ASN][1000 genomes]
rs397678	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs398458	1.00[ASN][1000 genomes]
rs398783	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs401343	0.97[ASN][1000 genomes]
rs402247	0.98[ASN][1000 genomes]
rs403552	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs405499	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs406668	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs406961	0.98[ASN][1000 genomes]
rs407182	0.98[ASN][1000 genomes]
rs407751	1.00[ASN][1000 genomes]
rs409976	0.96[ASN][1000 genomes]
rs414859	0.98[ASN][1000 genomes]
rs415876	0.98[ASN][1000 genomes]
rs416480	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs416593	1.00[ASN][1000 genomes]
rs416637	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs416814	1.00[ASN][1000 genomes]
rs416866	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs418081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419780	0.98[ASN][1000 genomes]
rs423497	0.97[ASN][1000 genomes]
rs424254	0.97[ASN][1000 genomes]
rs425561	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs425760	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs426050	0.81[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs427743	1.00[ASN][1000 genomes]
rs428529	1.00[ASN][1000 genomes]
rs429247	1.00[ASN][1000 genomes]
rs429550	1.00[ASN][1000 genomes]
rs431253	0.98[ASN][1000 genomes]
rs434190	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs434271	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs434462	0.98[ASN][1000 genomes]
rs436876	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs442082	0.98[ASN][1000 genomes]
rs442412	1.00[ASN][1000 genomes]
rs445730	1.00[ASN][1000 genomes]
rs446358	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs446919	0.98[ASN][1000 genomes]
rs449162	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4694072	0.97[EUR][1000 genomes]
rs4694073	0.97[EUR][1000 genomes]
rs4694288	0.97[EUR][1000 genomes]
rs6600842	0.99[ASN][1000 genomes]
rs66850244	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs68060708	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6814072	1.00[ASN][1000 genomes]
rs6833138	0.99[ASN][1000 genomes]
rs6842738	1.00[ASN][1000 genomes]
rs72636508	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72636509	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72636510	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72636512	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs72651930	0.93[EUR][1000 genomes]
rs73826110	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7657065	0.99[EUR][1000 genomes]
rs7684016	1.00[ASN][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	esv2757061	chr4:69178920-69631668	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2763366	chr4:69592847-69661427	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013885	chr4:69592847-69667996	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv829961	chr4:69592847-69695467	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv594579	chr4:69597175-69665970	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1014042	chr4:69599853-69667996	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv13953	chr4:69608522-69614042	Flanking Active TSS Enhancers Weak transcription Active TSS	lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69609800-69615400	Enhancers	Fetal Intestine Small	intestine
2	chr4:69611800-69614000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:69612000-69614200	Weak transcription	Stomach Mucosa	stomach
4	chr4:69612000-69615600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:69612000-69616000	Weak transcription	HepG2	liver
6	chr4:69613200-69614000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:69613200-69615200	Enhancers	Fetal Intestine Large	intestine
8	chr4:69613400-69614800	Enhancers	A549	lung
9	chr4:69613400-69615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:69613600-69614000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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