Variant report

Variant	rs548765045
Chromosome Location	chr1:224245363-224245364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv511736	chr1:224245309-224248054	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224241000-224245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:224241000-224245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:224241000-224245400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:224241200-224245400	Weak transcription	HSMM	muscle
5	chr1:224241200-224245400	Weak transcription	NH-A	brain
6	chr1:224241200-224245600	Weak transcription	NHDF-Ad	bronchial
7	chr1:224241800-224245600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:224244400-224245600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:224244400-224247000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:224244800-224245800	Enhancers	HepG2	liver
11	chr1:224244800-224248000	Enhancers	HUVEC	blood vessel
12	chr1:224245000-224245600	Enhancers	NHEK	skin
13	chr1:224245000-224246600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:224245000-224246800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:224245000-224247000	Enhancers	HMEC	breast
16	chr1:224245200-224245600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:224245200-224245600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:224245200-224245800	Enhancers	Duodenum Mucosa	Duodenum
19	chr1:224245200-224246000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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