Variant report

Variant	rs1790693
Chromosome Location	chr18:28675533-28675534
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28655509..28657780-chr18:28673533..28675759,2	K562	blood:
2	chr18:28673150..28676508-chr18:28678975..28681813,4	K562	blood:

Variant related genes	Relation type
ENSG00000265888	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1036523	1.00[YRI][hapmap]
rs1658103	0.86[AFR][1000 genomes]
rs1789047	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:55 , 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	chr18:28648600-28678800	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:28649200-28680800	Weak transcription	Gastric	stomach
6	chr18:28649400-28679600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:28650200-28675800	Weak transcription	Stomach Mucosa	stomach
8	chr18:28652800-28679800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:28654200-28679800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:28654200-28679800	Weak transcription	Lung	lung
11	chr18:28654200-28679800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:28656600-28680200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr18:28657400-28679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:28660800-28676400	Weak transcription	Fetal Intestine Small	intestine
15	chr18:28660800-28679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:28660800-28679800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:28663000-28679200	Weak transcription	Colonic Mucosa	Colon
18	chr18:28666800-28679800	Weak transcription	Esophagus	oesophagus
19	chr18:28667600-28678800	Weak transcription	HMEC	breast
20	chr18:28667800-28679400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:28669200-28675800	Weak transcription	Pancreas	Pancrea
22	chr18:28669600-28675800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:28669600-28680000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:28671000-28679600	Weak transcription	Adipose Nuclei	Adipose
25	chr18:28671600-28678600	Weak transcription	K562	blood
26	chr18:28672000-28676200	Weak transcription	Fetal Intestine Large	intestine
27	chr18:28672000-28680200	Weak transcription	Brain Anterior Caudate	brain
28	chr18:28672600-28679000	Weak transcription	Fetal Heart	heart
29	chr18:28672600-28679800	Weak transcription	Placenta	Placenta
30	chr18:28672800-28680000	Weak transcription	Liver	Liver
31	chr18:28673400-28678600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr18:28673400-28678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:28673400-28679800	Weak transcription	Left Ventricle	heart
34	chr18:28673600-28677800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr18:28673600-28678600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr18:28673600-28678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr18:28673600-28679000	Weak transcription	NHEK	skin
38	chr18:28673600-28679200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:28673600-28679600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr18:28673600-28679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr18:28673600-28679800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:28673600-28679800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr18:28674200-28678800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:28674200-28679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:28674200-28679800	Weak transcription	Right Atrium	heart
46	chr18:28674800-28675600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr18:28674800-28676600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr18:28675000-28675600	Enhancers	HepG2	liver
49	chr18:28675200-28676600	Enhancers	Duodenum Mucosa	Duodenum
50	chr18:28675200-28676600	Enhancers	Rectal Mucosa Donor 31	rectum

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