Variant report

Variant	rs548754814
Chromosome Location	chr1:78958036-78958037
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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv871260	chr1:78957859-78976570	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78956200-78958400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:78956200-78958400	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr1:78956200-78958400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
4	chr1:78956200-78958800	Active TSS	Colon Smooth Muscle	Colon
5	chr1:78956200-78958800	Active TSS	Rectal Smooth Muscle	rectum
6	chr1:78956200-78961400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:78956400-78958200	Active TSS	NHDF-Ad	bronchial
8	chr1:78956600-78958200	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:78957400-78958200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:78957600-78958600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:78957600-78958600	Enhancers	Placenta	Placenta
12	chr1:78957600-78959200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:78957800-78958200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:78957800-78958200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
15	chr1:78957800-78958200	Enhancers	NH-A	brain
16	chr1:78957800-78958200	Flanking Active TSS	Osteobl	bone
17	chr1:78957800-78958400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:78957800-78958400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:78957800-78958400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr1:78957800-78958600	Active TSS	Adipose Nuclei	Adipose
21	chr1:78957800-78961600	Weak transcription	HSMM	muscle
22	chr1:78957800-78961600	Weak transcription	HSMMtube	muscle
23	chr1:78957800-78966000	Weak transcription	Ovary	ovary
24	chr1:78957800-78966000	Weak transcription	Pancreas	Pancrea
25	chr1:78958000-78958200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:78958000-78958400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:78958000-78958600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:78958000-78960400	Enhancers	Fetal Brain Male	brain
29	chr1:78958000-78962200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:78958000-78965600	Weak transcription	NHLF	lung

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