Variant report

Variant	rs28534561
Chromosome Location	chr2:145848311-145848312
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	chr2:145846784..145849563-chr2:145851350..145854349,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10496974	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12618916	0.87[ASN][1000 genomes]
rs12988894	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13014698	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13026163	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13035660	0.96[ASN][1000 genomes]
rs13408842	0.87[ASN][1000 genomes]
rs16824481	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs16824484	0.98[ASN][1000 genomes]
rs1852681	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1997287	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28409418	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28837998	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35541381	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35690045	0.96[ASN][1000 genomes]
rs4662233	0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6740528	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67571782	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs68088326	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7426239	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs787428	0.86[ASN][1000 genomes]
rs787429	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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:13 , 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	chr2:145843800-145848400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:145843800-145849200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:145844800-145849800	Weak transcription	HSMM	muscle
5	chr2:145845200-145849200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:145846600-145849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:145846600-145849600	Weak transcription	A549	lung
8	chr2:145846600-145851000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:145846800-145848600	Weak transcription	NHLF	lung
10	chr2:145846800-145848600	Weak transcription	Osteobl	bone
11	chr2:145846800-145849200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:145846800-145853400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:145848200-145850200	Enhancers	NHDF-Ad	bronchial

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