Variant report

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13333856	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1985323	1.00[MEX][hapmap]
rs28453927	1.00[AFR][1000 genomes]
rs28570519	0.89[AFR][1000 genomes]
rs6500353	1.00[MEX][hapmap]
rs9926879	1.00[MEX][hapmap]
rs9935240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9938295	1.00[MEX][hapmap]

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	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2761906	chr16:48109727-48125855	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48114200-48116800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr16:48114200-48117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:48114800-48116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:48114800-48116600	Enhancers	A549	lung
5	chr16:48115000-48117000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:48115200-48116600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr16:48115200-48116600	Enhancers	NH-A	brain
8	chr16:48115200-48116800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:48115200-48117000	Enhancers	HSMM	muscle
10	chr16:48115400-48116600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr16:48115400-48116600	Enhancers	HSMMtube	muscle
12	chr16:48115600-48116600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:48116000-48116600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr16:48116000-48116800	Enhancers	Fetal Muscle Trunk	muscle
15	chr16:48116000-48116800	Enhancers	Fetal Muscle Leg	muscle
16	chr16:48116200-48117000	Enhancers	Osteobl	bone
17	chr16:48116400-48117400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:48116400-48118200	Weak transcription	Psoas Muscle	Psoas
19	chr16:48116400-48118400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr16:48116400-48120000	Weak transcription	Left Ventricle	heart

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