Variant report

Variant	rs1652187
Chromosome Location	chr12:30459854-30459855
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	chr12:30448261..30450995-chr12:30458439..30460562,2	K562	blood:

Variant related genes	Relation type
ENSG00000257756	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10082827	0.89[EUR][1000 genomes]
rs10082936	0.89[EUR][1000 genomes]
rs10083054	0.89[EUR][1000 genomes]
rs10771701	0.84[EUR][1000 genomes]
rs10771702	0.85[EUR][1000 genomes]
rs10843721	0.86[EUR][1000 genomes]
rs10843722	0.85[EUR][1000 genomes]
rs11050819	0.89[EUR][1000 genomes]
rs11050824	0.86[EUR][1000 genomes]
rs11050825	0.86[EUR][1000 genomes]
rs11834249	0.89[EUR][1000 genomes]
rs11835626	0.86[EUR][1000 genomes]
rs12313162	0.89[EUR][1000 genomes]
rs12322792	0.86[EUR][1000 genomes]
rs12322860	0.86[EUR][1000 genomes]
rs12578380	0.86[EUR][1000 genomes]
rs12580598	0.86[EUR][1000 genomes]
rs12580879	0.86[EUR][1000 genomes]
rs1320922	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1320923	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1320925	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1429622	0.84[EUR][1000 genomes]
rs1429636	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1506373	0.86[EUR][1000 genomes]
rs1506374	0.86[EUR][1000 genomes]
rs1506375	0.86[EUR][1000 genomes]
rs1612581	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1612791	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1612949	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1613702	0.80[ASN][1000 genomes]
rs1652138	0.83[EUR][1000 genomes]
rs1652184	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1652185	0.80[ASN][1000 genomes]
rs1652186	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1652188	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1652189	0.80[ASN][1000 genomes]
rs1652191	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1652193	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16906211	0.85[ASN][1000 genomes]
rs1731490	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1731491	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1731492	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1731493	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1731500	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1731503	0.80[ASN][1000 genomes]
rs1731515	0.80[ASN][1000 genomes]
rs17464127	0.83[EUR][1000 genomes]
rs2115689	0.87[EUR][1000 genomes]
rs2115690	0.87[EUR][1000 genomes]
rs2163114	0.87[EUR][1000 genomes]
rs2163115	0.86[EUR][1000 genomes]
rs2564526	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2564527	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2564593	0.80[ASN][1000 genomes]
rs2700026	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2703363	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4032076	0.86[EUR][1000 genomes]
rs4032077	0.87[EUR][1000 genomes]
rs4032078	0.87[EUR][1000 genomes]
rs4032081	0.88[EUR][1000 genomes]
rs4032082	0.89[EUR][1000 genomes]
rs4032092	0.86[EUR][1000 genomes]
rs4304873	0.86[EUR][1000 genomes]
rs4304874	0.86[EUR][1000 genomes]
rs4426203	0.89[EUR][1000 genomes]
rs4444166	0.86[EUR][1000 genomes]
rs4562911	0.83[EUR][1000 genomes]
rs4564417	0.89[EUR][1000 genomes]
rs57783386	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58747169	0.86[EUR][1000 genomes]
rs73287069	0.86[EUR][1000 genomes]
rs7358618	0.86[EUR][1000 genomes]
rs7358619	0.86[EUR][1000 genomes]
rs7358666	0.86[EUR][1000 genomes]
rs7485854	0.82[EUR][1000 genomes]
rs7977589	0.86[EUR][1000 genomes]
rs906114	0.86[EUR][1000 genomes]
rs906115	0.86[EUR][1000 genomes]
rs9804786	0.86[EUR][1000 genomes]
rs9804787	0.86[EUR][1000 genomes]
rs9805027	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832360	chr12:30393329-30555693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517916	chr12:30454845-30485611	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv8937	chr12:30457162-30462498	Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	2 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	chr12:30458400-30460800	Enhancers	Placenta	Placenta
2	chr12:30459200-30461600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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