Variant report

Variant	rs10014997
Chromosome Location	chr4:69792494-69792495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10000481	1.00[EUR][1000 genomes]
rs10001065	0.81[AFR][1000 genomes]
rs10004381	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10005280	1.00[EUR][1000 genomes]
rs10006282	0.82[AFR][1000 genomes]
rs10013724	0.87[AFR][1000 genomes]
rs10015332	1.00[EUR][1000 genomes]
rs10018123	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10024664	0.88[AFR][1000 genomes]
rs10030582	1.00[EUR][1000 genomes]
rs10030703	1.00[EUR][1000 genomes]
rs1020767	0.83[AFR][1000 genomes]
rs10903220	0.89[AFR][1000 genomes]
rs10903221	0.89[AFR][1000 genomes]
rs10903222	1.00[EUR][1000 genomes]
rs1117530	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1117531	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11249512	0.85[AFR][1000 genomes]
rs11249513	0.85[AFR][1000 genomes]
rs11249515	0.83[AFR][1000 genomes]
rs11736796	0.89[AFR][1000 genomes]
rs12513263	0.83[ASN][1000 genomes]
rs12649831	0.83[ASN][1000 genomes]
rs12651170	0.83[ASN][1000 genomes]
rs12719836	0.83[ASN][1000 genomes]
rs1303726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13106664	0.85[AFR][1000 genomes]
rs13113179	1.00[EUR][1000 genomes]
rs13128286	0.89[AFR][1000 genomes]
rs13128843	0.89[AFR][1000 genomes]
rs13148179	0.81[AFR][1000 genomes]
rs13148459	1.00[EUR][1000 genomes]
rs1379814	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1379815	1.00[EUR][1000 genomes]
rs1458227	0.83[ASN][1000 genomes]
rs1458228	0.83[ASN][1000 genomes]
rs1458231	0.83[ASN][1000 genomes]
rs1458236	0.86[AFR][1000 genomes]
rs1458237	0.86[AFR][1000 genomes]
rs1458239	1.00[EUR][1000 genomes]
rs1458241	0.83[ASN][1000 genomes]
rs1598901	1.00[EUR][1000 genomes]
rs1824264	0.85[ASN][1000 genomes]
rs1841035	0.83[ASN][1000 genomes]
rs1902924	1.00[EUR][1000 genomes]
rs1902926	0.87[AFR][1000 genomes]
rs1902928	0.87[AFR][1000 genomes]
rs1962953	0.89[AFR][1000 genomes]
rs2009312	0.89[AFR][1000 genomes]
rs2017125	0.89[AFR][1000 genomes]
rs2125306	1.00[EUR][1000 genomes]
rs2168841	0.85[AFR][1000 genomes]
rs2331561	0.85[AFR][1000 genomes]
rs2331562	0.85[AFR][1000 genomes]
rs2331565	0.83[ASN][1000 genomes]
rs2331566	1.00[EUR][1000 genomes]
rs2331575	1.00[EUR][1000 genomes]
rs2331576	1.00[EUR][1000 genomes]
rs28607084	0.83[ASN][1000 genomes]
rs2877423	1.00[EUR][1000 genomes]
rs3088249	0.80[AFR][1000 genomes]
rs3749511	0.88[AFR][1000 genomes]
rs3749513	0.80[AFR][1000 genomes]
rs3828503	1.00[EUR][1000 genomes]
rs3966087	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4518317	0.87[AFR][1000 genomes]
rs6812386	1.00[EUR][1000 genomes]
rs6814321	1.00[EUR][1000 genomes]
rs6833541	0.83[ASN][1000 genomes]
rs6833931	0.83[ASN][1000 genomes]
rs6847505	0.83[ASN][1000 genomes]
rs6851405	0.83[ASN][1000 genomes]
rs6858371	1.00[EUR][1000 genomes]
rs7657317	1.00[EUR][1000 genomes]
rs7664636	1.00[EUR][1000 genomes]
rs7666446	0.89[AFR][1000 genomes]
rs7672933	1.00[EUR][1000 genomes]
rs7674475	0.89[AFR][1000 genomes]
rs7678708	1.00[EUR][1000 genomes]
rs7688541	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9329038	1.00[EUR][1000 genomes]
rs994229	0.85[AFR][1000 genomes]
rs9996467	0.88[AFR][1000 genomes]
rs9999996	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv3398036	chr4:69700493-69841391	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv436447	chr4:69743339-69851390	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv4372	chr4:69764499-69810115	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv967758	chr4:69780530-69870183	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3448476	chr4:69790113-69792511	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69790600-69792800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:69790600-69793800	Weak transcription	HepG2	liver
3	chr4:69791800-69794800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:69792000-69795000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:69792400-69812600	Weak transcription	Rectal Mucosa Donor 29	rectum

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