Variant report

Variant	rs344205
Chromosome Location	chr8:62943811-62943812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10107785	0.89[EUR][1000 genomes]
rs1040195	0.89[EUR][1000 genomes]
rs11990400	0.89[EUR][1000 genomes]
rs1400506	0.89[EUR][1000 genomes]
rs1400512	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1516994	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1516995	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1546639	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1546640	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1607125	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1607132	0.87[EUR][1000 genomes]
rs1814134	0.89[EUR][1000 genomes]
rs2138642	0.88[EUR][1000 genomes]
rs2176342	0.85[ASN][1000 genomes]
rs2176346	0.89[EUR][1000 genomes]
rs2203659	0.88[EUR][1000 genomes]
rs2351083	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28634373	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28804830	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs344201	0.85[EUR][1000 genomes]
rs344208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344211	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs344229	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs344237	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs344239	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs344243	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs344244	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344249	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344253	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344263	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs344264	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs344265	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs344266	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs344267	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs344271	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35035266	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35999143	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55819473	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56098200	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57027979	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57232729	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59040850	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59691363	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61402923	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61475697	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62508546	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7814557	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7818829	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832965	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9694964	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs978254	0.89[EUR][1000 genomes]
rs978255	0.89[EUR][1000 genomes]
rs992841	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][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	nsv890951	chr8:62889169-62989464	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv890952	chr8:62898648-62989464	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv890953	chr8:62899559-62989464	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv890954	chr8:62919691-63023132	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv890955	chr8:62919691-63062581	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv520442	chr8:62928715-62962071	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62940400-62944000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:62940800-62945600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:62940800-62946000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:62941000-62944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:62943600-62944200	Enhancers	A549	lung
6	chr8:62943600-62944400	Enhancers	Cortex derived primary cultured neurospheres	brain

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