Variant report

Variant	rs4815306
Chromosome Location	chr20:24726315-24726316
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1000042	0.94[EUR][1000 genomes]
rs1000044	0.95[EUR][1000 genomes]
rs1007135	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1007136	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10427467	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13044709	0.90[EUR][1000 genomes]
rs13045011	0.90[EUR][1000 genomes]
rs1474776	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535065	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535066	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569756	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998153	0.95[EUR][1000 genomes]
rs1998154	0.95[EUR][1000 genomes]
rs1998155	0.95[EUR][1000 genomes]
rs226682	0.85[EUR][1000 genomes]
rs226683	0.87[EUR][1000 genomes]
rs226684	0.87[EUR][1000 genomes]
rs226692	0.86[EUR][1000 genomes]
rs226693	0.86[EUR][1000 genomes]
rs226694	0.86[EUR][1000 genomes]
rs226695	0.86[EUR][1000 genomes]
rs226696	0.84[EUR][1000 genomes]
rs226700	0.85[EUR][1000 genomes]
rs226701	0.85[EUR][1000 genomes]
rs2424642	0.83[ASN][1000 genomes]
rs2424643	0.83[ASN][1000 genomes]
rs2424647	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424648	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424651	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424653	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424654	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424655	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424656	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424657	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424658	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424659	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424677	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424679	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424680	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424681	0.98[EUR][1000 genomes]
rs2424682	0.98[EUR][1000 genomes]
rs2424683	0.98[EUR][1000 genomes]
rs2424684	0.96[EUR][1000 genomes]
rs2424685	0.96[EUR][1000 genomes]
rs2424686	0.93[EUR][1000 genomes]
rs2892219	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4239750	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813534	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813535	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813536	0.94[EUR][1000 genomes]
rs4813537	0.88[EUR][1000 genomes]
rs4815304	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815309	0.87[EUR][1000 genomes]
rs4815311	0.90[EUR][1000 genomes]
rs6036899	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036900	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036903	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036905	0.94[EUR][1000 genomes]
rs6036907	0.88[EUR][1000 genomes]
rs6049940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049944	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049945	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049947	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049949	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049950	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6049951	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049963	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6049964	0.98[EUR][1000 genomes]
rs6049967	0.87[EUR][1000 genomes]
rs6049968	0.96[EUR][1000 genomes]
rs6049970	0.95[EUR][1000 genomes]
rs6076273	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083603	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083604	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083605	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083615	0.96[EUR][1000 genomes]
rs6083616	0.96[EUR][1000 genomes]
rs6083617	0.95[EUR][1000 genomes]
rs6106941	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106946	0.93[EUR][1000 genomes]
rs6114860	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114861	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61190607	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132763	0.96[EUR][1000 genomes]
rs6132764	0.96[EUR][1000 genomes]
rs6138371	0.96[EUR][1000 genomes]
rs6138372	0.96[EUR][1000 genomes]
rs62216905	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6515532	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs732829	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs73329	0.86[EUR][1000 genomes]
rs85805	0.87[EUR][1000 genomes]
rs910242	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926710	0.83[ASN][1000 genomes]
rs926711	0.83[ASN][1000 genomes]
rs971956	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1061281	chr20:24711635-24815107	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv544217	chr20:24711635-24815107	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv912825	chr20:24715544-24813345	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24717400-24727600	Enhancers	Fetal Thymus	thymus
2	chr20:24720000-24726600	Weak transcription	Spleen	Spleen
3	chr20:24723000-24729000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:24723600-24727000	Enhancers	Thymus	Thymus
5	chr20:24724200-24726600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:24724600-24726600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr20:24724600-24726600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr20:24724600-24726800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:24724600-24727000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr20:24724600-24727000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr20:24724600-24732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr20:24724800-24727000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr20:24725200-24727800	Enhancers	Stomach Mucosa	stomach
14	chr20:24725400-24727000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr20:24725600-24726600	Weak transcription	Pancreas	Pancrea
16	chr20:24725800-24726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:24725800-24727600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr20:24725800-24727600	Enhancers	Dnd41	blood
19	chr20:24726000-24726400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr20:24726000-24726400	Enhancers	Fetal Kidney	kidney
21	chr20:24726200-24726600	Enhancers	A549	lung
22	chr20:24726200-24727200	Enhancers	Esophagus	oesophagus
23	chr20:24726200-24728200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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