Variant report

Variant	rs553009018
Chromosome Location	chr5:70847593-70847594
allele	A/G
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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv882177	chr5:70800538-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv882178	chr5:70806958-70856378	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv882179	chr5:70807073-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
8	esv3422044	chr5:70846621-70849169	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
2	chr5:70820200-70857400	Weak transcription	Small Intestine	intestine
3	chr5:70825200-70859600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
5	chr5:70827600-70864400	Strong transcription	Liver	Liver
6	chr5:70828000-70847600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:70829400-70847600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:70830600-70847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:70831400-70864600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:70833800-70847600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:70833800-70847800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:70834200-70862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:70835800-70847600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr5:70835800-70850400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:70836400-70847600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:70837000-70848000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:70837800-70861800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:70838000-70859400	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr5:70838400-70847600	Strong transcription	Fetal Intestine Small	intestine
21	chr5:70838400-70847800	Strong transcription	Fetal Stomach	stomach
22	chr5:70838400-70850200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:70838800-70847600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:70839400-70870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:70840400-70849800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:70841400-70860800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:70841800-70849000	Weak transcription	Psoas Muscle	Psoas
28	chr5:70842800-70849000	Weak transcription	K562	blood
29	chr5:70843000-70848000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:70843400-70847600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:70843400-70849200	Weak transcription	Brain Angular Gyrus	brain
32	chr5:70843600-70848600	Weak transcription	HUVEC	blood vessel
33	chr5:70843600-70849800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:70844600-70847600	Strong transcription	Gastric	stomach
35	chr5:70844800-70847600	Strong transcription	Ovary	ovary
36	chr5:70844800-70847600	Strong transcription	Pancreas	Pancrea
37	chr5:70844800-70850000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:70845400-70849600	Weak transcription	NHLF	lung
39	chr5:70845600-70849200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr5:70845600-70849400	Weak transcription	Fetal Kidney	kidney
41	chr5:70845600-70849400	Weak transcription	HSMM	muscle
42	chr5:70845800-70847600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:70846000-70848600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:70846000-70848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:70846000-70849000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:70846000-70849400	Weak transcription	A549	lung
47	chr5:70846000-70849400	Weak transcription	Hela-S3	cervix
48	chr5:70846000-70853600	Weak transcription	Fetal Brain Male	brain
49	chr5:70846000-70863800	Weak transcription	Esophagus	oesophagus
50	chr5:70846000-70872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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