Variant report

Variant	rs553559982
Chromosome Location	chr1:224746981-224746982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224740000-224762200	Weak transcription	Ovary	ovary
2	chr1:224741400-224751400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:224742000-224753000	Weak transcription	Pancreas	Pancrea
4	chr1:224745800-224748400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224746000-224747800	Enhancers	HMEC	breast
6	chr1:224746000-224748600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:224746200-224747800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:224746200-224748400	Enhancers	NHDF-Ad	bronchial
9	chr1:224746200-224748400	Enhancers	NHEK	skin
10	chr1:224746400-224747000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:224746400-224747200	Enhancers	Psoas Muscle	Psoas
12	chr1:224746400-224748000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:224746400-224748200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:224746400-224748600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:224746800-224748200	Enhancers	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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