Variant report

Variant	rs16824451
Chromosome Location	chr1:185733569-185733570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10047250	1.00[CHB][hapmap]
rs10465500	1.00[CHB][hapmap]
rs10489713	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10489714	1.00[CHB][hapmap]
rs10489715	1.00[CHB][hapmap]
rs10489716	1.00[CHB][hapmap]
rs10489717	1.00[CHB][hapmap]
rs10911785	1.00[CHB][hapmap]
rs1124755	1.00[ASN][1000 genomes]
rs1124756	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11800990	1.00[CHB][hapmap]
rs1321671	1.00[CHB][hapmap]
rs1321672	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1321673	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1321674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1321675	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1407428	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs1555494	1.00[CHB][hapmap]
rs16824426	1.00[CHB][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16824427	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16824428	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16824455	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16824458	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16824465	1.00[CHB][hapmap]
rs16824488	1.00[CHB][hapmap]
rs16824497	1.00[CHB][hapmap]
rs16824524	1.00[CHB][hapmap]
rs1825398	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1830622	1.00[CHB][hapmap]
rs2200266	1.00[CHB][hapmap]
rs6425004	1.00[CHB][hapmap]
rs6425005	1.00[CHB][hapmap]
rs6657554	1.00[CHB][hapmap]
rs6657683	1.00[CHB][hapmap]
rs6662653	1.00[CHB][hapmap]
rs6675691	1.00[CHB][hapmap]
rs6676522	1.00[CHB][hapmap]
rs6676629	1.00[CHB][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];1.00[AMR][1000 genomes]
rs6676765	1.00[CHB][hapmap]
rs6676937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6677167	1.00[CHB][hapmap];0.98[MKK][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6679816	1.00[CHB][hapmap];1.00[AMR][1000 genomes]
rs6683809	1.00[CHB][hapmap]
rs6685093	1.00[ASN][1000 genomes]
rs6688298	1.00[CHB][hapmap]
rs6689359	1.00[CHB][hapmap]
rs6690475	1.00[CHB][hapmap]
rs6690559	1.00[CHB][hapmap]
rs6690714	1.00[CHB][hapmap]
rs6696804	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs6698721	1.00[CHB][hapmap];1.00[GIH][hapmap]
rs73058398	1.00[ASN][1000 genomes]
rs73058399	1.00[ASN][1000 genomes]
rs74134381	1.00[ASN][1000 genomes]
rs7521401	1.00[CHB][hapmap]
rs7532062	1.00[AMR][1000 genomes]
rs7532816	1.00[AMR][1000 genomes]
rs7540727	1.00[CHB][hapmap]
rs7540773	1.00[GIH][hapmap]
rs7541361	1.00[CHB][hapmap]
rs7546152	1.00[CHB][hapmap]
rs7555536	1.00[AMR][1000 genomes]
rs959688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs959689	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs959690	1.00[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2753636	chr1:185706947-185734487	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185721800-185736400	Weak transcription	Fetal Lung	lung
2	chr1:185730200-185745000	Weak transcription	Fetal Kidney	kidney
3	chr1:185732400-185734800	Weak transcription	Aorta	Aorta
4	chr1:185732400-185742800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:185733200-185735600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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