Variant report

Variant	rs988905
Chromosome Location	chr1:186733129-186733130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186725401..186727434-chr1:186731024..186733767,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10489400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10737268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10752972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10752975	1.00[EUR][1000 genomes]
rs10798058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088741	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124257	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12136874	0.92[EUR][1000 genomes]
rs12725481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12738146	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1997673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2064132	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066823	1.00[ASN][1000 genomes]
rs2066824	1.00[ASN][1000 genomes]
rs2142817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2142818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2179225	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2205952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2223328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2383532	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2891253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2891254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3218622	1.00[ASN][1000 genomes]
rs3218623	1.00[ASN][1000 genomes]
rs3218624	1.00[ASN][1000 genomes]
rs3955272	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4140563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4648257	1.00[ASN][1000 genomes]
rs4648260	1.00[ASN][1000 genomes]
rs4648262	1.00[ASN][1000 genomes]
rs4648264	1.00[ASN][1000 genomes]
rs4648265	1.00[ASN][1000 genomes]
rs4648267	1.00[ASN][1000 genomes]
rs4648296	1.00[ASN][1000 genomes]
rs4648297	1.00[ASN][1000 genomes]
rs4648299	1.00[ASN][1000 genomes]
rs4650702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651325	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5270	1.00[ASN][1000 genomes]
rs5271	1.00[ASN][1000 genomes]
rs5278	1.00[ASN][1000 genomes]
rs55749947	1.00[ASN][1000 genomes]
rs56253891	1.00[ASN][1000 genomes]
rs57412622	1.00[ASN][1000 genomes]
rs61403154	1.00[ASN][1000 genomes]
rs6425045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6425047	1.00[EUR][1000 genomes]
rs66476634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656831	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6669569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74134986	1.00[ASN][1000 genomes]
rs74134987	1.00[ASN][1000 genomes]
rs74134988	1.00[ASN][1000 genomes]
rs74135000	1.00[ASN][1000 genomes]
rs74137506	1.00[ASN][1000 genomes]
rs74137507	1.00[ASN][1000 genomes]
rs74137508	1.00[ASN][1000 genomes]
rs74137513	1.00[ASN][1000 genomes]
rs7517157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7521061	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7522771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7552522	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760707	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760708	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs988904	1.00[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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv466261	chr1:186652395-186742947	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv548405	chr1:186652395-186742947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186730600-186734000	Enhancers	Hela-S3	cervix
2	chr1:186730800-186733200	Enhancers	HUVEC	blood vessel
3	chr1:186730800-186733600	Enhancers	A549	lung
4	chr1:186731400-186733200	Enhancers	NH-A	brain
5	chr1:186732000-186733600	Enhancers	GM12878-XiMat	blood
6	chr1:186732600-186734400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:186732800-186733200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:186733000-186735200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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