Variant report

Variant	rs12618916
Chromosome Location	chr2:145844225-145844226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145831836..145834513-chr2:145842893..145844887,2	K562	blood:
2	chr2:145841612..145843612-chr2:145843724..145846206,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10192407	0.82[EUR][1000 genomes]
rs10928240	0.85[EUR][1000 genomes]
rs1106909	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1125128	0.83[AFR][1000 genomes]
rs12691705	0.85[EUR][1000 genomes]
rs12988894	0.87[ASN][1000 genomes]
rs13028626	0.85[EUR][1000 genomes]
rs13035660	0.84[ASN][1000 genomes]
rs13408842	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16824481	0.86[ASN][1000 genomes]
rs16824484	0.85[ASN][1000 genomes]
rs1830319	0.82[EUR][1000 genomes]
rs1830321	0.85[EUR][1000 genomes]
rs1852681	0.86[ASN][1000 genomes]
rs1852684	0.85[EUR][1000 genomes]
rs1852685	0.86[EUR][1000 genomes]
rs2252641	0.80[EUR][1000 genomes]
rs2381686	0.96[EUR][1000 genomes]
rs2381687	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs28409418	0.86[ASN][1000 genomes]
rs28534561	0.87[ASN][1000 genomes]
rs28709970	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28837998	0.87[ASN][1000 genomes]
rs35541381	0.87[ASN][1000 genomes]
rs35690045	0.84[ASN][1000 genomes]
rs4662414	0.87[EUR][1000 genomes]
rs6725803	0.85[EUR][1000 genomes]
rs67571782	0.86[ASN][1000 genomes]
rs68088326	0.84[ASN][1000 genomes]
rs7593336	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs787428	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787429	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	nsv875262	chr2:145830053-145888369	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv875263	chr2:145830053-145892427	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875264	chr2:145830053-145911634	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145830400-145863200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:145841600-145846800	Enhancers	NHDF-Ad	bronchial
3	chr2:145842400-145844400	Enhancers	Fetal Muscle Leg	muscle
4	chr2:145842600-145844600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:145842800-145845200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:145843200-145845400	Enhancers	Fetal Lung	lung
7	chr2:145843400-145846400	Weak transcription	Osteobl	bone
8	chr2:145843600-145844800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:145843600-145845800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:145843800-145848400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:145843800-145849200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:145844000-145844400	Enhancers	Fetal Muscle Trunk	muscle
13	chr2:145844200-145844600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:145844200-145844600	Weak transcription	HSMM	muscle

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