Variant report

Variant	rs12649586
Chromosome Location	chr4:110053740-110053741
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110046492..110049056-chr4:110052841..110054367,2	K562	blood:
2	chr4:110052931..110055160-chr4:110078485..110080086,2	K562	blood:
3	chr4:110052949..110055372-chr4:110058720..110060420,2	K562	blood:
4	chr4:110052875..110055808-chr4:110318973..110320982,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10007809	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs10030903	1.00[CHB][hapmap]
rs10033402	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs10488875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10488876	1.00[CHB][hapmap]
rs11932715	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11939502	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs11943443	1.00[CHB][hapmap]
rs11946089	1.00[CHB][hapmap]
rs12640529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17039896	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17039914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17040025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17040052	0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17040077	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17040080	1.00[CHB][hapmap]
rs17040084	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs17040089	1.00[CHB][hapmap]
rs17040091	1.00[CHB][hapmap]
rs17040094	1.00[CHB][hapmap]
rs17040097	1.00[CHB][hapmap]
rs2189705	1.00[CHB][hapmap]
rs2526439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526446	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704105	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704111	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28503704	0.87[AMR][1000 genomes]
rs35128275	0.95[ASN][1000 genomes]
rs36050742	0.87[AMR][1000 genomes]
rs41390947	1.00[CHB][hapmap]
rs41395650	1.00[CHB][hapmap]
rs58601435	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6533415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6825986	1.00[CHB][hapmap]
rs6849377	0.87[AMR][1000 genomes]
rs7656748	1.00[CHB][hapmap]
rs7675810	1.00[CHB][hapmap]
rs7677934	0.87[AMR][1000 genomes]
rs7692009	1.00[CHB][hapmap]
rs9999518	1.00[CHB][hapmap];0.87[AMR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110047000-110085400	Weak transcription	Hela-S3	cervix
2	chr4:110053400-110054600	Weak transcription	K562	blood

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