Variant report

Variant	rs62133116
Chromosome Location	chr2:50483948-50483949
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10167892	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10186205	0.82[EUR][1000 genomes]
rs10187950	0.88[EUR][1000 genomes]
rs10211388	0.88[EUR][1000 genomes]
rs11681755	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11681846	0.96[EUR][1000 genomes]
rs11681950	0.94[EUR][1000 genomes]
rs11887362	0.95[EUR][1000 genomes]
rs11889906	0.97[EUR][1000 genomes]
rs11895273	0.97[EUR][1000 genomes]
rs11898208	0.93[EUR][1000 genomes]
rs11900179	0.97[EUR][1000 genomes]
rs11903624	0.95[EUR][1000 genomes]
rs13421566	0.82[EUR][1000 genomes]
rs1520528	0.95[EUR][1000 genomes]
rs17509125	0.96[EUR][1000 genomes]
rs1915218	0.97[EUR][1000 genomes]
rs28463997	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28582966	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34307425	0.86[EUR][1000 genomes]
rs58515366	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60062665	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6545156	0.88[EUR][1000 genomes]
rs6737523	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv470459	chr2:50431752-50514027	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50483000-50484000	Enhancers	Brain Germinal Matrix	brain
2	chr2:50483000-50485400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:50483200-50484600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:50483200-50484600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:50483200-50485400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:50483200-50485800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:50483400-50484000	Enhancers	H1 Cell Line	embryonic stem cell

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