Variant report

Variant	rs78994221
Chromosome Location	chr5:59082810-59082811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv427720	chr5:58913581-59086987	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv969224	chr5:59082431-59086204	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59068200-59085800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59081200-59083200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:59081400-59083200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:59081400-59083200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:59081400-59083200	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:59081400-59083200	Enhancers	HMEC	breast
7	chr5:59081400-59083200	Enhancers	NHDF-Ad	bronchial
8	chr5:59081600-59083000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:59081800-59083000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:59081800-59083400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:59081800-59090200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:59082000-59083000	Enhancers	HUVEC	blood vessel
13	chr5:59082000-59084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:59082400-59083200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:59082400-59085000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:59082400-59086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:59082400-59088200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:59082600-59083400	Enhancers	NHEK	skin
19	chr5:59082600-59084200	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:59082600-59085600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:59082600-59085600	Enhancers	Hela-S3	cervix
22	chr5:59082600-59086200	Weak transcription	Osteobl	bone
23	chr5:59082600-59088200	Weak transcription	Esophagus	oesophagus
24	chr5:59082600-59088600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:59082600-59089400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:59082800-59083200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:59082800-59084800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:59082800-59085400	Enhancers	A549	lung
29	chr5:59082800-59085600	Weak transcription	NH-A	brain
30	chr5:59082800-59085800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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