Variant report

Variant	rs2424685
Chromosome Location	chr20:24749788-24749789
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	chr20:24749036..24750576-chr20:24754349..24756115,2	MCF-7	breast:
2	chr20:24363369..24365498-chr20:24749184..24751241,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1000042	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1000044	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1007135	0.96[EUR][1000 genomes]
rs1007136	0.96[EUR][1000 genomes]
rs10427467	0.88[EUR][1000 genomes]
rs13044709	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13045011	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474776	0.96[EUR][1000 genomes]
rs1535065	0.96[EUR][1000 genomes]
rs1535066	0.96[EUR][1000 genomes]
rs1569756	0.96[EUR][1000 genomes]
rs1998153	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998154	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998155	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226682	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226683	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226684	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226692	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226693	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226694	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226695	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226696	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226700	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226701	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424647	0.95[EUR][1000 genomes]
rs2424648	0.95[EUR][1000 genomes]
rs2424651	0.91[EUR][1000 genomes]
rs2424652	0.96[EUR][1000 genomes]
rs2424653	0.87[EUR][1000 genomes]
rs2424654	0.93[EUR][1000 genomes]
rs2424655	0.96[EUR][1000 genomes]
rs2424656	0.96[EUR][1000 genomes]
rs2424657	0.96[EUR][1000 genomes]
rs2424658	0.96[EUR][1000 genomes]
rs2424659	0.96[EUR][1000 genomes]
rs2424677	0.96[EUR][1000 genomes]
rs2424679	0.95[EUR][1000 genomes]
rs2424680	0.96[EUR][1000 genomes]
rs2424681	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424682	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424683	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424684	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424686	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2892219	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239750	0.96[EUR][1000 genomes]
rs4813531	0.96[EUR][1000 genomes]
rs4813532	0.96[EUR][1000 genomes]
rs4813534	0.96[EUR][1000 genomes]
rs4813535	0.96[EUR][1000 genomes]
rs4813536	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4813537	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815304	0.95[EUR][1000 genomes]
rs4815305	0.96[EUR][1000 genomes]
rs4815306	0.96[EUR][1000 genomes]
rs4815309	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815311	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036899	0.96[EUR][1000 genomes]
rs6036900	0.96[EUR][1000 genomes]
rs6036903	0.96[EUR][1000 genomes]
rs6036905	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036907	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049940	0.96[EUR][1000 genomes]
rs6049941	0.96[EUR][1000 genomes]
rs6049942	0.96[EUR][1000 genomes]
rs6049944	0.96[EUR][1000 genomes]
rs6049945	0.96[EUR][1000 genomes]
rs6049947	0.96[EUR][1000 genomes]
rs6049949	0.96[EUR][1000 genomes]
rs6049950	0.96[EUR][1000 genomes]
rs6049951	0.96[EUR][1000 genomes]
rs6049963	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049964	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049967	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049970	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076273	0.96[EUR][1000 genomes]
rs6083603	0.96[EUR][1000 genomes]
rs6083604	0.96[EUR][1000 genomes]
rs6083605	0.96[EUR][1000 genomes]
rs6083615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083616	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083617	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6106941	0.96[EUR][1000 genomes]
rs6106946	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114860	0.96[EUR][1000 genomes]
rs6114861	0.92[EUR][1000 genomes]
rs61190607	0.96[EUR][1000 genomes]
rs6132763	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132764	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138371	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138372	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62216905	0.96[EUR][1000 genomes]
rs6515532	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73101419	1.00[ASN][1000 genomes]
rs732829	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73329	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs85805	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs910242	0.96[EUR][1000 genomes]
rs971956	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1061455	chr20:24733120-24861801	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv544218	chr20:24733120-24861801	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1059270	chr20:24741923-24787243	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24744400-24751400	Weak transcription	Thymus	Thymus
2	chr20:24745400-24755600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:24747800-24752000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr20:24748400-24749800	Enhancers	HSMM	muscle
5	chr20:24748400-24749800	Enhancers	NH-A	brain
6	chr20:24748600-24750000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:24748600-24750600	Enhancers	Fetal Muscle Trunk	muscle
8	chr20:24748800-24749800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr20:24748800-24750400	Enhancers	HSMMtube	muscle
10	chr20:24749000-24750000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr20:24749000-24751400	Weak transcription	Fetal Thymus	thymus
12	chr20:24749200-24750200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr20:24749200-24751600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr20:24749200-24763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:24749400-24749800	Weak transcription	Fetal Muscle Leg	muscle

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