Variant report

Variant	rs548369254
Chromosome Location	chr1:86534736-86534737
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1010312	chr1:86469730-86686426	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv525678	chr1:86487914-86549498	Enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1012467	chr1:86494935-86686426	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1797916	chr1:86529538-86556298	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv1009092	chr1:86532988-86724805	Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv535024	chr1:86532988-86724805	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86533000-86535200	Enhancers	HUVEC	blood vessel
2	chr1:86533000-86535400	Enhancers	NHDF-Ad	bronchial
3	chr1:86533000-86535600	Enhancers	NH-A	brain
4	chr1:86533000-86535600	Enhancers	Osteobl	bone
5	chr1:86533200-86535200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:86533200-86535200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:86533800-86534800	ZNF genes & repeats	Fetal Lung	lung
8	chr1:86533800-86535000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:86533800-86535200	Enhancers	HSMMtube	muscle
10	chr1:86533800-86535400	Enhancers	Fetal Muscle Leg	muscle
11	chr1:86533800-86535400	Enhancers	NHLF	lung
12	chr1:86533800-86535600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:86534000-86534800	ZNF genes & repeats	Fetal Stomach	stomach
14	chr1:86534000-86534800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:86534000-86535200	Enhancers	HSMM	muscle
16	chr1:86534000-86535400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:86534000-86535400	Enhancers	Fetal Muscle Trunk	muscle
18	chr1:86534000-86535600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:86534000-86535600	Enhancers	Adipose Nuclei	Adipose
20	chr1:86534000-86536000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:86534000-86536600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:86534200-86535400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:86534200-86535600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:86534200-86535600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:86534600-86535400	Enhancers	NHEK	skin

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