Variant report

Variant	rs552393804
Chromosome Location	chr5:70846670-70846671
allele	C/T
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	chr5:70822000-70847200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:70822600-70847400	Strong transcription	Dnd41	blood
5	chr5:70823200-70847200	Strong transcription	Primary T cells from cord blood	blood
6	chr5:70825200-70859600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
8	chr5:70827600-70847400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:70827600-70847400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:70827600-70864400	Strong transcription	Liver	Liver
11	chr5:70827800-70847400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr5:70828000-70847200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:70828000-70847600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:70829400-70847600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:70830000-70846800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:70830600-70847800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:70831000-70847200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr5:70831400-70847200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr5:70831400-70864600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr5:70833400-70846800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:70833400-70847200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:70833800-70847600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:70833800-70847800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:70834200-70862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:70834400-70847400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:70834800-70846800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:70834800-70847200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:70835000-70846800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr5:70835000-70847400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr5:70835200-70846800	Strong transcription	NH-A	brain
32	chr5:70835200-70847200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr5:70835200-70847400	Strong transcription	Fetal Intestine Large	intestine
34	chr5:70835600-70847200	Strong transcription	Fetal Lung	lung
35	chr5:70835800-70847600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr5:70835800-70850400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:70836400-70847600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:70836800-70847200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:70837000-70846800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:70837000-70847400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:70837000-70848000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:70837200-70846800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:70837200-70847400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr5:70837400-70847200	Strong transcription	Primary B cells from cord blood	blood
45	chr5:70837400-70847400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:70837600-70846800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr5:70837800-70846800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:70837800-70847400	Strong transcription	Fetal Thymus	thymus
49	chr5:70837800-70861800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:70838000-70846800	Strong transcription	Brain Germinal Matrix	brain

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