Variant report

Variant	rs112789574
Chromosome Location	chr5:179635916-179635917
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179633482..179636303-chr5:179718045..179719781,2	K562	blood:
2	chr5:179297336..179298161-chr5:179635822..179636672,3	K562	blood:

Variant related genes	Relation type
ENSG00000050748	Chromatin interaction
ENSG00000197226	Chromatin interaction

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	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
2	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
4	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv883289	chr5:179597647-179639885	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3429077	chr5:179635146-179637594	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179634400-179636600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr5:179634600-179636800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr5:179634800-179636000	Enhancers	Fetal Heart	heart
4	chr5:179634800-179636400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr5:179634800-179636600	Enhancers	Gastric	stomach
6	chr5:179634800-179636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:179635200-179636000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:179635200-179636800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr5:179635400-179636600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr5:179635600-179636000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr5:179635600-179636000	Flanking Active TSS	Pancreas	Pancrea
12	chr5:179635600-179636200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:179635600-179636200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:179635600-179636200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr5:179635600-179636200	Active TSS	Right Atrium	heart
16	chr5:179635600-179636400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:179635600-179636400	Active TSS	Brain Germinal Matrix	brain
18	chr5:179635600-179636400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:179635600-179636600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr5:179635600-179636600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:179635600-179636600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:179635600-179636600	Active TSS	Fetal Brain Female	brain
23	chr5:179635600-179636600	Enhancers	Spleen	Spleen
24	chr5:179635800-179636000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
25	chr5:179635800-179636000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:179635800-179636000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:179635800-179636000	Enhancers	Brain Substantia Nigra	brain
28	chr5:179635800-179636000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
29	chr5:179635800-179636000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
30	chr5:179635800-179636000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
31	chr5:179635800-179636000	Active TSS	HUVEC	blood vessel
32	chr5:179635800-179636000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr5:179635800-179636200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:179635800-179636200	Active TSS	Aorta	Aorta
35	chr5:179635800-179636200	Bivalent/Poised TSS	Colonic Mucosa	Colon
36	chr5:179635800-179636200	Bivalent/Poised TSS	Esophagus	oesophagus
37	chr5:179635800-179636200	Active TSS	Right Ventricle	heart
38	chr5:179635800-179636200	Bivalent/Poised TSS	Thymus	Thymus
39	chr5:179635800-179636400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:179635800-179636400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:179635800-179636400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:179635800-179636400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:179635800-179636400	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr5:179635800-179636400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:179635800-179636400	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr5:179635800-179636400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:179635800-179636400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:179635800-179636400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:179635800-179636400	Enhancers	Brain Anterior Caudate	brain
50	chr5:179635800-179636400	Active TSS	Brain Cingulate Gyrus	brain

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