Variant report

Variant	rs786247
Chromosome Location	chr2:145753280-145753281
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	chr2:145282963..145285154-chr2:145751784..145754718,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12477111	0.80[EUR][1000 genomes]
rs1371046	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1371048	0.82[ASN][1000 genomes]
rs1528188	0.82[ASN][1000 genomes]
rs1528189	0.82[ASN][1000 genomes]
rs17407414	1.00[CHB][hapmap]
rs17407477	1.00[CHB][hapmap]
rs1968526	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1980383	0.82[ASN][1000 genomes]
rs2056751	0.82[EUR][1000 genomes]
rs2579022	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55855159	1.00[ASN][1000 genomes]
rs59766404	0.82[ASN][1000 genomes]
rs6430071	1.00[CHB][hapmap]
rs6707062	0.81[EUR][1000 genomes]
rs6735063	0.82[ASN][1000 genomes]
rs726857	0.82[ASN][1000 genomes]
rs786218	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs786222	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786228	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs786229	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs786239	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs786242	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786244	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs786248	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs786252	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs786253	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs786257	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs786260	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs786272	0.82[EUR][1000 genomes]
rs812530	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs813684	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145748600-145756800	Weak transcription	Dnd41	blood
2	chr2:145748800-145753400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:145749200-145753400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:145749400-145753600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:145751600-145754200	Weak transcription	Ovary	ovary
6	chr2:145753000-145753400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:145753000-145753400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:145753000-145753600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:145753000-145753600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr2:145753000-145754200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr2:145753000-145754400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:145753200-145753600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:145753200-145754200	Flanking Active TSS	Osteobl	bone

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