Variant report

Variant	rs4239750
Chromosome Location	chr20:24727506-24727507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24651840..24653392-chr20:24727209..24728729,2	MCF-7	breast:
2	chr20:24726357..24729522-chr20:24732233..24738144,6	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1000042	0.93[EUR][1000 genomes]
rs1000044	0.95[EUR][1000 genomes]
rs1007135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1007136	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10427467	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13044709	0.89[EUR][1000 genomes]
rs13045011	0.89[EUR][1000 genomes]
rs1474776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535065	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535066	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	0.86[EUR][1000 genomes]
rs226684	0.86[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	0.83[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	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424648	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424651	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424652	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424653	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424654	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424655	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424658	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424659	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424677	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424679	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424680	0.95[AFR][1000 genomes];0.98[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	0.97[EUR][1000 genomes]
rs2424684	0.96[EUR][1000 genomes]
rs2424685	0.96[EUR][1000 genomes]
rs2424686	0.92[EUR][1000 genomes]
rs2892219	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4813531	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813532	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813534	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813535	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813536	0.94[EUR][1000 genomes]
rs4813537	0.88[EUR][1000 genomes]
rs4815304	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815305	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815306	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815309	0.86[EUR][1000 genomes]
rs4815311	0.89[EUR][1000 genomes]
rs6036899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036900	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036903	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036905	0.94[EUR][1000 genomes]
rs6036907	0.88[EUR][1000 genomes]
rs6049940	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049941	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049942	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049950	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6049951	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049963	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6049964	0.98[EUR][1000 genomes]
rs6049967	0.86[EUR][1000 genomes]
rs6049968	0.96[EUR][1000 genomes]
rs6049970	0.95[EUR][1000 genomes]
rs6076273	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083603	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106946	0.92[EUR][1000 genomes]
rs6114860	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114861	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61190607	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6515532	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs732829	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73329	0.86[EUR][1000 genomes]
rs85805	0.86[EUR][1000 genomes]
rs910242	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926710	0.83[ASN][1000 genomes]
rs926711	0.83[ASN][1000 genomes]
rs971956	0.96[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24717400-24727600	Enhancers	Fetal Thymus	thymus
2	chr20:24723000-24729000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:24724600-24732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:24725200-24727800	Enhancers	Stomach Mucosa	stomach
5	chr20:24725800-24727600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:24725800-24727600	Enhancers	Dnd41	blood
7	chr20:24726200-24728200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:24726400-24727600	Weak transcription	Fetal Kidney	kidney
9	chr20:24726400-24727800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:24726600-24727600	Enhancers	Pancreas	Pancrea
11	chr20:24726600-24727600	Enhancers	HMEC	breast
12	chr20:24726600-24727800	Enhancers	Duodenum Mucosa	Duodenum
13	chr20:24726600-24727800	Enhancers	Spleen	Spleen
14	chr20:24726600-24728400	Enhancers	Gastric	stomach
15	chr20:24726800-24728200	Enhancers	Placenta	Placenta
16	chr20:24727000-24727600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr20:24727000-24727800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:24727000-24728200	Flanking Active TSS	Thymus	Thymus
19	chr20:24727400-24727600	Enhancers	A549	lung
20	chr20:24727400-24728400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr20:24727400-24734000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:24727400-24743400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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