Variant report

Variant	rs1506389
Chromosome Location	chr12:30595726-30595727
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	chr12:30594497..30597214-chr12:30599271..30601913,3	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10771710	0.82[AMR][1000 genomes]
rs10771711	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771712	0.82[AMR][1000 genomes]
rs10771717	0.82[AMR][1000 genomes]
rs10771719	0.81[AMR][1000 genomes]
rs10843753	0.82[AMR][1000 genomes]
rs11050893	0.82[AMR][1000 genomes]
rs1354713	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1500109	0.82[AMR][1000 genomes]
rs1500110	0.82[AMR][1000 genomes]
rs1506368	0.82[AMR][1000 genomes]
rs1506370	0.86[EUR][1000 genomes]
rs1506386	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1506390	1.00[ASN][1000 genomes]
rs1506393	1.00[ASN][1000 genomes]
rs1553231	1.00[ASN][1000 genomes]
rs1580964	0.82[AMR][1000 genomes]
rs1588006	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846649	0.82[AMR][1000 genomes]
rs2062999	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2133688	1.00[ASN][1000 genomes]
rs354098	1.00[ASN][1000 genomes]
rs4488290	0.81[AMR][1000 genomes]
rs4564414	1.00[ASN][1000 genomes]
rs4931327	0.86[EUR][1000 genomes]
rs4931328	0.86[EUR][1000 genomes]
rs4931329	0.82[AMR][1000 genomes]
rs4931332	0.82[AMR][1000 genomes]
rs4931334	0.82[AMR][1000 genomes]
rs4931335	0.82[AMR][1000 genomes]
rs4931336	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487916	1.00[ASN][1000 genomes]
rs6487917	1.00[ASN][1000 genomes]
rs7301701	1.00[ASN][1000 genomes]
rs7302894	1.00[ASN][1000 genomes]
rs7311808	1.00[ASN][1000 genomes]
rs7312790	0.86[EUR][1000 genomes]
rs7952779	0.82[AMR][1000 genomes]
rs7954065	0.86[EUR][1000 genomes]
rs7957688	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7958112	0.86[EUR][1000 genomes]
rs7958461	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968815	0.86[EUR][1000 genomes]
rs7973080	0.82[AMR][1000 genomes]
rs7973114	0.86[EUR][1000 genomes]
rs885106	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1045252	chr12:30583170-30621743	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1050233	chr12:30590071-30670919	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30590800-30596400	Weak transcription	Right Atrium	heart
2	chr12:30592600-30600000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:30593000-30602400	Weak transcription	Liver	Liver
4	chr12:30594000-30596200	Weak transcription	Fetal Heart	heart
5	chr12:30594800-30596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:30594800-30600200	Weak transcription	Spleen	Spleen
7	chr12:30595000-30596200	Weak transcription	Fetal Stomach	stomach

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