Variant report

Variant	rs1040425
Chromosome Location	chr1:210134548-210134549
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	chr1:210134246..210137088-chr1:210140873..210143040,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1040424	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1040426	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10489346	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs10779521	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs10863800	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10863809	0.83[ASN][1000 genomes]
rs11119373	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11119377	0.84[ASN][1000 genomes]
rs11119380	0.96[AFR][1000 genomes]
rs11119384	0.97[ASN][1000 genomes]
rs11119388	0.94[ASN][1000 genomes]
rs11119392	0.82[AFR][1000 genomes]
rs11119394	0.89[ASN][1000 genomes]
rs11119398	0.85[ASN][1000 genomes]
rs11119403	0.85[ASN][1000 genomes]
rs11119415	0.92[EUR][1000 genomes]
rs11119419	0.92[EUR][1000 genomes]
rs11119420	0.92[EUR][1000 genomes]
rs11811996	0.89[AFR][1000 genomes]
rs12059828	0.85[ASN][1000 genomes]
rs12061641	0.85[ASN][1000 genomes]
rs12073617	0.85[ASN][1000 genomes]
rs12078802	1.00[ASN][1000 genomes]
rs12078871	0.96[AFR][1000 genomes]
rs12080332	0.83[AFR][1000 genomes]
rs12084199	0.96[ASN][1000 genomes]
rs12085177	0.97[ASN][1000 genomes]
rs12090781	0.96[AFR][1000 genomes]
rs12092551	0.80[AFR][1000 genomes]
rs12094626	0.99[ASN][1000 genomes]
rs12354000	0.93[ASN][1000 genomes]
rs12405519	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12405601	1.00[ASN][1000 genomes]
rs12565072	0.88[ASN][1000 genomes]
rs1387932	0.86[ASN][1000 genomes]
rs1602289	0.88[AFR][1000 genomes]
rs17015476	0.82[AFR][1000 genomes]
rs17015480	0.96[AFR][1000 genomes]
rs17015532	0.82[AFR][1000 genomes]
rs17015564	0.86[ASN][1000 genomes]
rs17015565	0.86[ASN][1000 genomes]
rs17015566	0.86[ASN][1000 genomes]
rs17015667	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs2151940	0.92[EUR][1000 genomes]
rs4844501	0.93[ASN][1000 genomes]
rs4844502	0.93[ASN][1000 genomes]
rs4844916	0.93[ASN][1000 genomes]
rs4844923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4844935	0.89[ASN][1000 genomes]
rs4844937	0.89[ASN][1000 genomes]
rs4844938	0.87[ASN][1000 genomes]
rs4844939	0.89[ASN][1000 genomes]
rs4844940	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs4844941	0.87[ASN][1000 genomes]
rs4844942	0.87[ASN][1000 genomes]
rs4844943	0.86[ASN][1000 genomes]
rs4844944	0.84[ASN][1000 genomes]
rs4844950	0.92[EUR][1000 genomes]
rs56105015	0.83[AFR][1000 genomes]
rs713114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72649912	0.83[ASN][1000 genomes]
rs72649913	0.83[ASN][1000 genomes]
rs72649914	0.83[ASN][1000 genomes]
rs72649920	0.92[ASN][1000 genomes]
rs72649921	0.91[ASN][1000 genomes]
rs72649923	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72649924	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72649925	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72649937	0.87[ASN][1000 genomes]
rs72649938	0.87[ASN][1000 genomes]
rs72649940	0.87[ASN][1000 genomes]
rs72649948	0.86[ASN][1000 genomes]
rs72649949	0.86[ASN][1000 genomes]
rs73066498	0.96[AFR][1000 genomes]
rs73068419	0.90[AFR][1000 genomes]
rs7512760	0.90[AFR][1000 genomes]
rs760768	0.86[ASN][1000 genomes]
rs9803620	0.96[AFR][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825811	chr1:210082206-210135806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210120000-210136000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:210126800-210152000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:210130400-210146000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:210134400-210139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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