Variant report

Variant	rs6594599
Chromosome Location	chr5:111809807-111809808
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111809237..111810846-chr5:111815691..111818419,2	K562	blood:

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs10039730	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10041380	0.82[ASN][1000 genomes]
rs10044406	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10050630	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10051512	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10056040	0.82[ASN][1000 genomes]
rs10059675	0.82[ASN][1000 genomes]
rs10060534	0.82[ASN][1000 genomes]
rs10060831	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10061025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10061207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10062045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10068969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10068974	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10069134	0.88[EUR][1000 genomes]
rs10069313	0.82[ASN][1000 genomes]
rs10069608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10069773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10071058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10071862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10071986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10072705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10076627	0.82[ASN][1000 genomes]
rs10077058	0.82[ASN][1000 genomes]
rs10077309	0.82[ASN][1000 genomes]
rs10077774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1019473	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10477480	0.82[ASN][1000 genomes]
rs10478081	1.00[JPT][hapmap]
rs10478082	1.00[JPT][hapmap]
rs10478083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10478084	1.00[JPT][hapmap]
rs10478086	0.82[ASN][1000 genomes]
rs10515444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12187850	1.00[CHB][hapmap]
rs12189127	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12189152	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12189437	1.00[CEU][hapmap]
rs1318178	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13354202	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13354699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1345685	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1524423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1524424	0.82[ASN][1000 genomes]
rs1554624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134382	1.00[CHB][hapmap]
rs17134423	1.00[JPT][hapmap]
rs17134426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17134429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17134454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17134478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17134479	0.82[ASN][1000 genomes]
rs17134503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17134505	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17347283	1.00[CEU][hapmap]
rs2067096	0.88[EUR][1000 genomes]
rs2416285	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs28497526	0.82[ASN][1000 genomes]
rs28626415	0.82[ASN][1000 genomes]
rs28716575	0.82[ASN][1000 genomes]
rs28806604	0.82[ASN][1000 genomes]
rs28831993	0.82[ASN][1000 genomes]
rs28836584	0.82[ASN][1000 genomes]
rs28851506	0.82[ASN][1000 genomes]
rs28887818	0.82[ASN][1000 genomes]
rs2900063	0.82[ASN][1000 genomes]
rs388383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3985058	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4292487	0.86[EUR][1000 genomes]
rs4441914	0.82[ASN][1000 genomes]
rs448714	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs55814486	0.86[EUR][1000 genomes]
rs6594590	1.00[JPT][hapmap]
rs6594594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6594596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6594597	0.82[ASN][1000 genomes]
rs67638655	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6860402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6861534	0.82[ASN][1000 genomes]
rs6863610	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6865127	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6865715	1.00[JPT][hapmap]
rs6867914	1.00[CHB][hapmap]
rs6873453	0.82[ASN][1000 genomes]
rs6875349	1.00[CHB][hapmap]
rs6878092	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6878158	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6879906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6882162	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6883585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6883800	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6884339	1.00[JPT][hapmap]
rs6890476	1.00[JPT][hapmap]
rs6891512	1.00[JPT][hapmap]
rs6893840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894365	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6894395	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895299	0.82[ASN][1000 genomes]
rs721054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs721055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs73214254	0.82[ASN][1000 genomes]
rs73214256	0.82[ASN][1000 genomes]
rs73214261	0.82[ASN][1000 genomes]
rs73214264	0.82[ASN][1000 genomes]
rs73214270	0.82[ASN][1000 genomes]
rs73214272	0.82[ASN][1000 genomes]
rs73214274	0.82[ASN][1000 genomes]
rs73216591	0.82[ASN][1000 genomes]
rs73218321	0.82[ASN][1000 genomes]
rs73218339	0.82[ASN][1000 genomes]
rs73218340	0.82[ASN][1000 genomes]
rs73218343	0.82[ASN][1000 genomes]
rs73218347	0.82[ASN][1000 genomes]
rs73218348	0.82[ASN][1000 genomes]
rs73218349	0.82[ASN][1000 genomes]
rs73220307	0.82[ASN][1000 genomes]
rs7702830	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7702999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7705094	0.82[ASN][1000 genomes]
rs7706551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7706737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7707028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7709879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7709963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7710041	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7710063	0.82[ASN][1000 genomes]
rs7710507	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7711662	0.82[ASN][1000 genomes]
rs7714450	0.82[ASN][1000 genomes]
rs7725728	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7725742	0.82[ASN][1000 genomes]
rs7730739	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7733415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7736305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs821746	1.00[CHB][hapmap]
rs9326853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9654518	0.82[ASN][1000 genomes]
rs985873	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs986797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9885137	1.00[JPT][hapmap]
rs9885182	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9885209	0.82[ASN][1000 genomes]
rs9885211	0.82[ASN][1000 genomes]
rs9885390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs999243	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 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	chr5:111807600-111810000	Enhancers	HUVEC	blood vessel
2	chr5:111808400-111810800	Weak transcription	Fetal Kidney	kidney
3	chr5:111809600-111810000	Enhancers	Fetal Lung	lung
4	chr5:111809800-111811400	Enhancers	Fetal Brain Male	brain
5	chr5:111809800-111813000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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