Variant report

Variant	rs532891597
Chromosome Location	chr18:29262114-29262115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr18:29262109-29262447	GM12878	blood:	n/a	n/a
2	NRF1	chr18:29261991-29262178	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29259339..29260872-chr18:29261230..29264110,2	K562	blood:

Variant related genes	Relation type
ENSG00000259985	TF binding region

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	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv2577449	chr18:29262076-29263295	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253200-29262800	Weak transcription	HepG2	liver
2	chr18:29253600-29262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:29257800-29262400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr18:29257800-29262600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
7	chr18:29258200-29262600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr18:29258200-29263000	Enhancers	Primary hematopoietic stem cells	blood
9	chr18:29258200-29263200	Weak transcription	Fetal Thymus	thymus
10	chr18:29258200-29263600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
12	chr18:29258400-29262200	Enhancers	Fetal Intestine Large	intestine
13	chr18:29258400-29262200	Enhancers	Fetal Intestine Small	intestine
14	chr18:29258400-29263200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:29258800-29263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:29259000-29263000	Weak transcription	Psoas Muscle	Psoas
17	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
18	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr18:29259400-29263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:29259600-29263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr18:29259800-29263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:29259800-29263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:29259800-29263800	Weak transcription	NHDF-Ad	bronchial
25	chr18:29260000-29262400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr18:29260000-29263800	Weak transcription	Osteobl	bone
27	chr18:29260200-29263600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:29260200-29263800	Weak transcription	Adipose Nuclei	Adipose
29	chr18:29260400-29263000	Enhancers	Dnd41	blood
30	chr18:29260400-29263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:29260400-29263400	Weak transcription	NH-A	brain
32	chr18:29260400-29263800	Weak transcription	Liver	Liver
33	chr18:29260400-29264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr18:29260600-29262800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:29260600-29262800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:29260600-29263000	Weak transcription	Fetal Brain Female	brain
37	chr18:29260600-29263200	Weak transcription	Fetal Heart	heart
38	chr18:29260600-29263600	Weak transcription	Right Atrium	heart
39	chr18:29260600-29263800	Weak transcription	Colonic Mucosa	Colon
40	chr18:29260600-29264200	Weak transcription	Left Ventricle	heart
41	chr18:29260600-29264200	Weak transcription	Lung	lung
42	chr18:29260600-29264200	Weak transcription	Pancreas	Pancrea
43	chr18:29260800-29263200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr18:29260800-29263600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr18:29260800-29264000	Weak transcription	Right Ventricle	heart
46	chr18:29261000-29262200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr18:29261000-29262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:29261000-29263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr18:29261000-29263200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr18:29261000-29263200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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