Variant report

Variant	rs72907854
Chromosome Location	chr18:39193771-39193772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10163854	0.91[EUR][1000 genomes]
rs10502770	0.86[EUR][1000 genomes]
rs10502771	0.88[EUR][1000 genomes]
rs10502772	0.95[EUR][1000 genomes]
rs11875076	0.90[EUR][1000 genomes]
rs12968299	1.00[ASN][1000 genomes]
rs13381575	0.87[EUR][1000 genomes]
rs1368833	0.83[EUR][1000 genomes]
rs1433929	0.83[EUR][1000 genomes]
rs1560844	0.86[EUR][1000 genomes]
rs16975000	0.85[EUR][1000 genomes]
rs16975004	0.85[EUR][1000 genomes]
rs16975007	0.85[EUR][1000 genomes]
rs16975010	0.86[EUR][1000 genomes]
rs16975012	0.85[EUR][1000 genomes]
rs16975017	0.85[EUR][1000 genomes]
rs16975021	0.86[EUR][1000 genomes]
rs16975022	0.86[EUR][1000 genomes]
rs16975025	0.86[EUR][1000 genomes]
rs16975049	0.87[EUR][1000 genomes]
rs17597349	1.00[ASN][1000 genomes]
rs17656030	1.00[ASN][1000 genomes]
rs1942063	0.88[EUR][1000 genomes]
rs1942065	0.87[EUR][1000 genomes]
rs1942069	0.86[EUR][1000 genomes]
rs1942070	0.86[EUR][1000 genomes]
rs1942072	1.00[ASN][1000 genomes]
rs2156006	0.87[EUR][1000 genomes]
rs2315174	0.87[EUR][1000 genomes]
rs2587614	1.00[ASN][1000 genomes]
rs2587617	1.00[ASN][1000 genomes]
rs2587630	1.00[ASN][1000 genomes]
rs2587631	1.00[ASN][1000 genomes]
rs2587640	1.00[ASN][1000 genomes]
rs2587641	1.00[ASN][1000 genomes]
rs2587643	1.00[ASN][1000 genomes]
rs2587644	1.00[ASN][1000 genomes]
rs2587645	1.00[ASN][1000 genomes]
rs2587646	1.00[ASN][1000 genomes]
rs2587647	1.00[ASN][1000 genomes]
rs2612320	1.00[ASN][1000 genomes]
rs2612321	1.00[ASN][1000 genomes]
rs2612322	1.00[ASN][1000 genomes]
rs2612337	1.00[ASN][1000 genomes]
rs2612341	1.00[ASN][1000 genomes]
rs2612345	1.00[ASN][1000 genomes]
rs2612346	1.00[ASN][1000 genomes]
rs2612347	1.00[ASN][1000 genomes]
rs2612349	1.00[ASN][1000 genomes]
rs2612350	1.00[ASN][1000 genomes]
rs2612351	1.00[ASN][1000 genomes]
rs2703169	1.00[ASN][1000 genomes]
rs2703170	1.00[ASN][1000 genomes]
rs28374486	0.94[EUR][1000 genomes]
rs28414473	0.94[EUR][1000 genomes]
rs2848747	1.00[ASN][1000 genomes]
rs2848748	1.00[ASN][1000 genomes]
rs2848757	1.00[ASN][1000 genomes]
rs2848769	1.00[ASN][1000 genomes]
rs34177537	1.00[ASN][1000 genomes]
rs34817685	1.00[ASN][1000 genomes]
rs35462279	0.85[EUR][1000 genomes]
rs4404160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55797333	0.88[EUR][1000 genomes]
rs55891807	1.00[ASN][1000 genomes]
rs56274716	1.00[ASN][1000 genomes]
rs56324213	1.00[ASN][1000 genomes]
rs56812327	0.88[EUR][1000 genomes]
rs57249168	0.88[EUR][1000 genomes]
rs58350157	0.85[EUR][1000 genomes]
rs6507424	0.88[EUR][1000 genomes]
rs6507425	0.95[EUR][1000 genomes]
rs6507428	0.83[EUR][1000 genomes]
rs66959060	1.00[ASN][1000 genomes]
rs7229356	0.94[EUR][1000 genomes]
rs7237488	0.83[EUR][1000 genomes]
rs7238489	1.00[ASN][1000 genomes]
rs7238895	1.00[ASN][1000 genomes]
rs7244165	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892179	1.00[ASN][1000 genomes]
rs72903956	1.00[ASN][1000 genomes]
rs72903960	1.00[ASN][1000 genomes]
rs72903968	1.00[ASN][1000 genomes]
rs72903976	1.00[ASN][1000 genomes]
rs72903977	1.00[ASN][1000 genomes]
rs72903981	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72903999	1.00[ASN][1000 genomes]
rs72905909	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72905919	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905923	0.85[EUR][1000 genomes]
rs72905924	0.85[EUR][1000 genomes]
rs72905927	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905948	0.85[EUR][1000 genomes]
rs72905963	0.88[EUR][1000 genomes]
rs72905965	0.88[EUR][1000 genomes]
rs72905967	0.88[EUR][1000 genomes]
rs72905973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905979	0.88[EUR][1000 genomes]
rs72905981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905986	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905989	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72907817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907819	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72907821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907830	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72907836	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72907842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907848	0.88[EUR][1000 genomes]
rs72907850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907853	1.00[ASN][1000 genomes]
rs72907855	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907861	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72907862	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72909913	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72909919	1.00[ASN][1000 genomes]
rs72909936	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72909959	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs734357	0.87[EUR][1000 genomes]
rs73450796	0.87[EUR][1000 genomes]
rs8087434	0.88[EUR][1000 genomes]
rs8087485	0.87[EUR][1000 genomes]
rs8098315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098394	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9949338	0.83[EUR][1000 genomes]
rs9956251	0.84[EUR][1000 genomes]
rs9965809	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv2754126	chr18:39183202-39194702	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39182600-39204400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:39185000-39209600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr18:39190800-39204000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:39190800-39210200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:39192000-39194000	Enhancers	Fetal Heart	heart
6	chr18:39193200-39193800	Enhancers	Fetal Thymus	thymus
7	chr18:39193400-39197200	Weak transcription	Fetal Lung	lung

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