Variant report

Variant	rs548128965
Chromosome Location	chr18:29263258-29263259
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	POLR2A	chr18:29262931-29263437	GM12878	blood:	n/a	n/a
2	TBP	chr18:29263189-29263802	GM12878	blood:	n/a	chr18:29263250-29263261

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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
3	chr18:29258200-29263600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
5	chr18:29258800-29263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
7	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:29259400-29263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:29259600-29263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr18:29259800-29263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:29259800-29263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr18:29259800-29263800	Weak transcription	NHDF-Ad	bronchial
14	chr18:29260000-29263800	Weak transcription	Osteobl	bone
15	chr18:29260200-29263600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:29260200-29263800	Weak transcription	Adipose Nuclei	Adipose
17	chr18:29260400-29263400	Weak transcription	NH-A	brain
18	chr18:29260400-29263800	Weak transcription	Liver	Liver
19	chr18:29260400-29264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr18:29260600-29263600	Weak transcription	Right Atrium	heart
21	chr18:29260600-29263800	Weak transcription	Colonic Mucosa	Colon
22	chr18:29260600-29264200	Weak transcription	Left Ventricle	heart
23	chr18:29260600-29264200	Weak transcription	Lung	lung
24	chr18:29260600-29264200	Weak transcription	Pancreas	Pancrea
25	chr18:29260800-29263600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr18:29260800-29264000	Weak transcription	Right Ventricle	heart
27	chr18:29261000-29263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr18:29261000-29263800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:29261000-29264000	Weak transcription	Stomach Mucosa	stomach
30	chr18:29261000-29264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:29261000-29264200	Weak transcription	Gastric	stomach
32	chr18:29261600-29263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr18:29261600-29263800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr18:29261600-29265600	Active TSS	GM12878-XiMat	blood
35	chr18:29261800-29263600	Weak transcription	Hela-S3	cervix
36	chr18:29262000-29266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr18:29262200-29263400	Weak transcription	Fetal Intestine Small	intestine
38	chr18:29262400-29263600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr18:29262400-29265800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr18:29262600-29264400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr18:29262600-29266400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr18:29262800-29263400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:29262800-29263400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:29262800-29263600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr18:29262800-29263600	Enhancers	HepG2	liver
46	chr18:29262800-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr18:29262800-29265800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr18:29262800-29265800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr18:29262800-29265800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr18:29263000-29263400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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