Variant report

Variant	rs2574111
Chromosome Location	chr2:115547704-115547705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10188948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11904812	0.83[AMR][1000 genomes]
rs1519672	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2437455	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs319845	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs319846	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs319847	0.94[ASN][1000 genomes]
rs319848	0.94[ASN][1000 genomes]
rs319849	0.98[ASN][1000 genomes]
rs319850	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs319851	0.96[ASN][1000 genomes]
rs319852	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs388581	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6542221	0.93[ASN][1000 genomes]
rs6542222	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6542223	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6723690	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6736929	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7568289	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[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	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv431502	chr2:115139566-115617936	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv582715	chr2:115495142-115573499	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv459019	chr2:115495142-115599013	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv874911	chr2:115515053-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv874915	chr2:115520205-115554390	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1001980	chr2:115539567-115551331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115546400-115549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr2:115546800-115548000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr2:115546800-115549000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:115546800-115549400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:115547000-115547800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:115547000-115548000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:115547200-115548200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:115547400-115548000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:115547600-115548400	Weak transcription	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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