Variant report

Variant	rs482228
Chromosome Location	chr1:176190013-176190014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:176178548..176180685-chr1:176189640..176192354,2	K562	blood:
2	chr1:176182002..176183788-chr1:176187433..176190030,2	K562	blood:
3	chr1:176175139..176178556-chr1:176187821..176190649,4	K562	blood:

Variant related genes	Relation type
ENSG00000143207	Chromatin interaction
ENSG00000236021	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10913152	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10913166	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12117377	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12731148	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12758275	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1393763	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1858537	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs191606	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2039230	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2102479	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2175178	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2455730	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2455732	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2455749	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2455762	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2455764	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2457418	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2487144	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2504501	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34612848	0.81[EUR][1000 genomes]
rs35907544	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3924562	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3962371	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4298694	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs501142	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs513354	0.85[AMR][1000 genomes]
rs520661	0.85[AMR][1000 genomes]
rs534088	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs542742	0.82[AMR][1000 genomes]
rs596859	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs617078	0.85[AMR][1000 genomes]
rs659279	0.85[AMR][1000 genomes]
rs668154	0.85[AMR][1000 genomes]
rs6687280	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6700932	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs670143	0.83[AMR][1000 genomes]
rs679728	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs704829	0.81[EUR][1000 genomes]
rs704834	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71645275	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7535769	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs791743	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs791746	0.82[AMR][1000 genomes]
rs791747	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs791751	0.82[AMR][1000 genomes]
rs791752	0.82[AMR][1000 genomes]
rs791753	0.82[AMR][1000 genomes]
rs813180	0.84[AMR][1000 genomes]
rs9425447	0.82[AMR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr1:176177600-176198600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:176178200-176193800	Weak transcription	Pancreas	Pancrea
3	chr1:176186000-176221400	Weak transcription	Brain Angular Gyrus	brain
4	chr1:176187200-176193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:176189400-176190200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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