Variant report

Variant	rs13027348
Chromosome Location	chr2:49072952-49072953
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	chr2:49067039..49069722-chr2:49070584..49073190,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12613652	0.94[ASN][1000 genomes]
rs13001105	0.93[ASN][1000 genomes]
rs13002543	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13002594	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13019604	0.98[ASN][1000 genomes]
rs13030500	0.95[ASN][1000 genomes]
rs13030632	0.96[ASN][1000 genomes]
rs13030729	0.91[ASN][1000 genomes]
rs13034735	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34075428	0.94[ASN][1000 genomes]
rs34965941	0.92[ASN][1000 genomes]
rs35451419	1.00[ASN][1000 genomes]
rs36080348	0.93[ASN][1000 genomes]
rs3934824	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934825	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934826	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934827	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4331561	0.93[ASN][1000 genomes]
rs57694457	0.96[ASN][1000 genomes]
rs66481918	0.93[ASN][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	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49071200-49073200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:49071200-49073400	Enhancers	HMEC	breast
4	chr2:49071200-49073600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:49071400-49073600	Enhancers	NHEK	skin
6	chr2:49071600-49073400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:49071800-49073000	Enhancers	Osteobl	bone
8	chr2:49072000-49073200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:49072200-49073200	Enhancers	Brain Germinal Matrix	brain
10	chr2:49072600-49076800	Weak transcription	NH-A	brain
11	chr2:49072800-49076400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:49072800-49078200	Weak transcription	NHLF	lung
13	chr2:49072800-49079800	Weak transcription	HSMM	muscle
14	chr2:49072800-49080200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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