Variant report

Variant	rs2121708
Chromosome Location	chr14:42146572-42146573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10131184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10140527	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap]
rs10149052	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10150353	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10483526	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1111177	0.86[EUR][1000 genomes]
rs1111179	0.92[CEU][hapmap];0.98[TSI][hapmap];0.83[EUR][1000 genomes]
rs11157241	0.80[EUR][1000 genomes]
rs11157247	0.84[ASW][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1137567	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11628299	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12431444	0.85[EUR][1000 genomes]
rs12879030	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1597053	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1609735	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs17781288	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1950831	0.89[EUR][1000 genomes]
rs1950834	0.85[EUR][1000 genomes]
rs1950835	0.92[CEU][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs1950838	0.88[EUR][1000 genomes]
rs1956450	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2415688	1.00[JPT][hapmap]
rs4356390	0.86[EUR][1000 genomes]
rs61990286	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61990288	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61990289	0.86[EUR][1000 genomes]
rs6572099	0.87[EUR][1000 genomes]
rs67505447	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7148091	0.85[EUR][1000 genomes]
rs72684563	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8003822	0.89[EUR][1000 genomes]
rs8006276	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8007172	0.86[EUR][1000 genomes]
rs8007820	0.83[AMR][1000 genomes]
rs8008204	0.84[AMR][1000 genomes]
rs8009571	0.85[AMR][1000 genomes]
rs8013655	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901738	chr14:42145461-42302552	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2121708	LRFN5	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42132600-42148000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:42146200-42147800	Weak transcription	Fetal Muscle Trunk	muscle

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