Variant report

Variant	rs2214497
Chromosome Location	chr7:51057108-51057109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1018941	0.81[AMR][1000 genomes]
rs1018942	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1018979	0.81[AMR][1000 genomes]
rs1018980	0.81[AMR][1000 genomes]
rs1024472	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10262964	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11765215	0.81[AMR][1000 genomes]
rs12534954	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13310888	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1859264	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1859265	1.00[AMR][1000 genomes]
rs1859477	0.81[AMR][1000 genomes]
rs1989265	0.81[AMR][1000 genomes]
rs2023879	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2189428	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2189429	1.00[AMR][1000 genomes]
rs2214494	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2214495	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2329569	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4947530	0.81[AMR][1000 genomes]
rs4947549	0.86[AMR][1000 genomes]
rs4948086	0.81[AMR][1000 genomes]
rs4948088	0.81[AMR][1000 genomes]
rs4948146	1.00[AMR][1000 genomes]
rs6943902	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971609	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979183	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs720068	0.81[AMR][1000 genomes]
rs7803628	0.81[AMR][1000 genomes]
rs886437	1.00[AMR][1000 genomes]
rs917073	0.81[AMR][1000 genomes]
rs976088	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2761146	chr7:50975457-51957019	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1027122	chr7:50984824-51376078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv538836	chr7:50984824-51376078	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv830999	chr7:51020735-51164809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51056600-51060400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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