Variant report

Variant	rs4127780
Chromosome Location	chr14:63522662-63522663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10132722	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10134176	0.94[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs10136314	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs10147103	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10162413	0.98[ASN][1000 genomes]
rs10873166	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1111365	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1111450	0.83[ASW][hapmap]
rs11158469	0.81[JPT][hapmap]
rs11158471	0.83[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.88[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs1950983	0.94[ASW][hapmap];0.89[YRI][hapmap]
rs1950985	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap]
rs1956670	0.83[ASW][hapmap];0.83[CHB][hapmap];0.89[CHD][hapmap]
rs1956674	0.84[JPT][hapmap]
rs2356101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs3850312	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs3915801	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4127778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4584750	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs6573480	0.94[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7141839	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7156008	0.89[JPT][hapmap]
rs7159344	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8006668	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8015817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs8017368	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs8018618	0.90[ASN][1000 genomes]
rs8019140	0.88[ASW][hapmap];0.82[LWK][hapmap];0.86[YRI][hapmap]
rs8020935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs941709	0.83[CHB][hapmap];0.89[CHD][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4127780	TOMM20L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63521600-63523200	Enhancers	Fetal Brain Male	brain

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