Variant report

Variant	rs2424649
Chromosome Location	chr20:24724867-24724868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11698988	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1883922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244284	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2253628	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226664	0.87[EUR][1000 genomes]
rs226667	0.89[EUR][1000 genomes]
rs226668	0.89[EUR][1000 genomes]
rs226669	0.89[EUR][1000 genomes]
rs226670	0.89[EUR][1000 genomes]
rs226671	0.90[EUR][1000 genomes]
rs226672	0.89[EUR][1000 genomes]
rs226674	0.89[EUR][1000 genomes]
rs226675	0.89[EUR][1000 genomes]
rs226676	0.89[EUR][1000 genomes]
rs226677	0.89[EUR][1000 genomes]
rs226678	0.89[EUR][1000 genomes]
rs226679	0.89[EUR][1000 genomes]
rs226680	0.89[EUR][1000 genomes]
rs226681	0.89[EUR][1000 genomes]
rs226687	0.84[EUR][1000 genomes]
rs226688	0.83[EUR][1000 genomes]
rs226690	0.89[EUR][1000 genomes]
rs226697	0.80[EUR][1000 genomes]
rs226699	0.87[EUR][1000 genomes]
rs2424646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424650	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424661	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424662	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424663	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424664	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424665	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424666	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424667	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424668	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424669	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424670	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424671	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424672	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424673	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424674	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424675	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2424678	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2424689	0.80[EUR][1000 genomes]
rs4813530	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815307	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049931	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6049932	1.00[ASN][1000 genomes]
rs6049946	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049965	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6076275	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6076276	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6076277	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6083620	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6106942	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132765	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6138373	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs85804	0.84[EUR][1000 genomes]
rs971957	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974647	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[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:16 , 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	chr20:24721400-24726000	Weak transcription	Fetal Kidney	kidney
4	chr20:24722400-24725800	Weak transcription	Dnd41	blood
5	chr20:24723000-24729000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:24723600-24727000	Enhancers	Thymus	Thymus
7	chr20:24724000-24726200	Weak transcription	Esophagus	oesophagus
8	chr20:24724200-24726600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr20:24724600-24725800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:24724600-24726600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr20:24724600-24726600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr20:24724600-24726800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:24724600-24727000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr20:24724600-24727000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr20:24724600-24732600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr20:24724800-24727000	Weak transcription	H1 Cell Line	embryonic stem cell

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