Variant report

Variant	rs56108385
Chromosome Location	chr1:70582216-70582217
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70579819..70586135-chr1:70587116..70591228,8	K562	blood:

Variant related genes	Relation type
ENSG00000033122	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs1009125	0.94[EUR][1000 genomes]
rs10493469	0.94[EUR][1000 genomes]
rs10493470	0.93[EUR][1000 genomes]
rs10493471	0.93[EUR][1000 genomes]
rs10493472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11799572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810684	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810719	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810721	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1353467	0.93[EUR][1000 genomes]
rs1472351	0.93[EUR][1000 genomes]
rs1576117	0.93[EUR][1000 genomes]
rs1590724	0.93[EUR][1000 genomes]
rs17131148	0.93[EUR][1000 genomes]
rs17131150	0.93[EUR][1000 genomes]
rs17131151	0.93[EUR][1000 genomes]
rs17131155	0.93[EUR][1000 genomes]
rs17131156	0.93[EUR][1000 genomes]
rs17131157	0.93[EUR][1000 genomes]
rs17131158	0.93[EUR][1000 genomes]
rs17131159	0.94[EUR][1000 genomes]
rs17131161	0.94[EUR][1000 genomes]
rs17131166	0.91[EUR][1000 genomes]
rs17131170	0.93[EUR][1000 genomes]
rs17131177	0.85[EUR][1000 genomes]
rs17131178	0.93[EUR][1000 genomes]
rs17131182	0.93[EUR][1000 genomes]
rs17131183	0.93[EUR][1000 genomes]
rs17131186	0.85[EUR][1000 genomes]
rs17131189	0.93[EUR][1000 genomes]
rs17131190	0.93[EUR][1000 genomes]
rs17131191	0.93[EUR][1000 genomes]
rs17131193	0.93[EUR][1000 genomes]
rs17131196	0.85[EUR][1000 genomes]
rs17131201	0.85[EUR][1000 genomes]
rs17131202	0.93[EUR][1000 genomes]
rs17131204	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131207	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131208	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131212	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131214	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131215	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131217	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131219	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131220	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131223	0.81[EUR][1000 genomes]
rs2031710	0.94[EUR][1000 genomes]
rs2101889	0.93[EUR][1000 genomes]
rs2220958	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220959	0.93[EUR][1000 genomes]
rs2421317	0.94[EUR][1000 genomes]
rs2421318	0.85[EUR][1000 genomes]
rs2421319	0.94[EUR][1000 genomes]
rs2421320	0.94[EUR][1000 genomes]
rs3738119	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41287888	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4649906	0.94[EUR][1000 genomes]
rs4649907	0.94[EUR][1000 genomes]
rs4650017	0.94[EUR][1000 genomes]
rs4650018	0.94[EUR][1000 genomes]
rs4650019	0.93[EUR][1000 genomes]
rs4650020	0.94[EUR][1000 genomes]
rs4650022	0.93[EUR][1000 genomes]
rs4650026	0.93[EUR][1000 genomes]
rs4650027	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55903530	0.94[EUR][1000 genomes]
rs55919205	0.94[EUR][1000 genomes]
rs55925122	0.83[EUR][1000 genomes]
rs55992448	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56013720	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56032859	0.94[EUR][1000 genomes]
rs56090839	0.93[EUR][1000 genomes]
rs56194840	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56245237	0.93[EUR][1000 genomes]
rs56397443	0.93[EUR][1000 genomes]
rs56410601	0.93[EUR][1000 genomes]
rs57502803	0.94[EUR][1000 genomes]
rs57977150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58382572	0.93[EUR][1000 genomes]
rs59199273	0.94[EUR][1000 genomes]
rs60383564	0.93[EUR][1000 genomes]
rs61782629	0.93[EUR][1000 genomes]
rs61782630	0.93[EUR][1000 genomes]
rs61782632	0.85[EUR][1000 genomes]
rs61782633	0.94[EUR][1000 genomes]
rs61782637	0.94[EUR][1000 genomes]
rs61782643	0.94[EUR][1000 genomes]
rs61782645	0.85[EUR][1000 genomes]
rs61782646	0.85[EUR][1000 genomes]
rs61784278	0.85[EUR][1000 genomes]
rs61784279	0.93[EUR][1000 genomes]
rs61784281	0.93[EUR][1000 genomes]
rs61784282	0.85[EUR][1000 genomes]
rs61784283	0.85[EUR][1000 genomes]
rs61784284	0.93[EUR][1000 genomes]
rs61784289	0.85[EUR][1000 genomes]
rs61784290	0.93[EUR][1000 genomes]
rs61784291	0.93[EUR][1000 genomes]
rs61784292	0.85[EUR][1000 genomes]
rs61784293	0.85[EUR][1000 genomes]
rs61784297	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61784310	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784313	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61784314	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs61784315	0.84[AMR][1000 genomes]
rs6690627	0.93[EUR][1000 genomes]
rs6694380	0.93[EUR][1000 genomes]
rs724681	0.85[EUR][1000 genomes]
rs72945241	0.93[EUR][1000 genomes]
rs74085938	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs74085939	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7413084	0.94[EUR][1000 genomes]
rs7511650	0.85[EUR][1000 genomes]
rs7518536	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7521532	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531630	0.91[EUR][1000 genomes]
rs7538198	0.93[EUR][1000 genomes]
rs9970462	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9970998	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70557000-70599600	Weak transcription	Fetal Brain Female	brain
2	chr1:70576400-70582600	Weak transcription	Fetal Lung	lung
3	chr1:70580800-70582400	Enhancers	Fetal Heart	heart

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