Variant report

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1172406	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2406596	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4942668	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7990297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9316327	0.89[EUR][1000 genomes]
rs9526373	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9534761	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832600	chr13:48183118-48341417	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv900066	chr13:48234112-48292845	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48245400-48248000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:48245600-48249600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:48245800-48248000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr13:48245800-48248400	Enhancers	Hela-S3	cervix
5	chr13:48246000-48246800	Enhancers	Fetal Stomach	stomach
6	chr13:48246000-48247200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:48246000-48247800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:48246000-48248000	Enhancers	HSMMtube	muscle
9	chr13:48246200-48246600	Enhancers	Fetal Brain Male	brain
10	chr13:48246200-48248000	Enhancers	NHDF-Ad	bronchial
11	chr13:48246400-48246600	Enhancers	Psoas Muscle	Psoas
12	chr13:48246400-48246800	Enhancers	Fetal Lung	lung
13	chr13:48246400-48246800	Enhancers	Fetal Muscle Leg	muscle
14	chr13:48246400-48246800	Enhancers	Right Atrium	heart
15	chr13:48246400-48246800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr13:48246400-48247200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:48246400-48247400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:48246400-48247600	Weak transcription	NHLF	lung
19	chr13:48246400-48247800	Enhancers	Adipose Nuclei	Adipose
20	chr13:48246400-48248000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr13:48246400-48248000	Enhancers	NH-A	brain

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