Variant report

Variant	rs1789047
Chromosome Location	chr18:28678890-28678891
allele	G/T
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	MAFK	chr18:28678888-28679165	HepG2	liver:	n/a	n/a
2	POLR2A	chr18:28678831-28678935	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28678241..28681068-chr18:28692831..28695270,2	K562	blood:

Variant related genes	Relation type
ENSG00000265888	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1658103	1.00[AFR][1000 genomes]
rs1790693	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28640800-28680400	Weak transcription	Right Ventricle	heart
2	chr18:28642800-28680600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:28647000-28679400	Weak transcription	Fetal Kidney	kidney
4	chr18:28649200-28680800	Weak transcription	Gastric	stomach
5	chr18:28649400-28679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:28652800-28679800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:28654200-28679800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:28654200-28679800	Weak transcription	Lung	lung
9	chr18:28654200-28679800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr18:28656600-28680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr18:28657400-28679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:28660800-28679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:28660800-28679800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:28663000-28679200	Weak transcription	Colonic Mucosa	Colon
15	chr18:28666800-28679800	Weak transcription	Esophagus	oesophagus
16	chr18:28667800-28679400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:28669600-28680000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr18:28671000-28679600	Weak transcription	Adipose Nuclei	Adipose
19	chr18:28672000-28680200	Weak transcription	Brain Anterior Caudate	brain
20	chr18:28672600-28679000	Weak transcription	Fetal Heart	heart
21	chr18:28672600-28679800	Weak transcription	Placenta	Placenta
22	chr18:28672800-28680000	Weak transcription	Liver	Liver
23	chr18:28673400-28679800	Weak transcription	Left Ventricle	heart
24	chr18:28673600-28679000	Weak transcription	NHEK	skin
25	chr18:28673600-28679200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:28673600-28679600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr18:28673600-28679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr18:28673600-28679800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr18:28673600-28679800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:28674200-28679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:28674200-28679800	Weak transcription	Right Atrium	heart
32	chr18:28675400-28679600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr18:28675400-28679600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr18:28675400-28679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:28675400-28679800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr18:28675600-28679600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr18:28676000-28679400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr18:28676200-28679800	Enhancers	Fetal Intestine Large	intestine
39	chr18:28676600-28679800	Weak transcription	Pancreas	Pancrea
40	chr18:28676600-28679800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr18:28676600-28680400	Weak transcription	Stomach Mucosa	stomach
42	chr18:28678600-28679000	Enhancers	K562	blood
43	chr18:28678600-28679200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr18:28678600-28679800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr18:28678600-28679800	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr18:28678600-28680200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr18:28678800-28679200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:28678800-28679200	Enhancers	Fetal Intestine Small	intestine
49	chr18:28678800-28679400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr18:28678800-28679600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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