Variant report

Variant	rs748733
Chromosome Location	chr18:13390244-13390245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:13386709..13390536-chr18:13391846..13393991,3	K562	blood:

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

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

rs_ID	r²[population]
rs10853232	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28680259	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs8096336	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13379800-13393600	Weak transcription	HepG2	liver
2	chr18:13383000-13393400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:13383000-13393800	Weak transcription	Fetal Lung	lung
4	chr18:13383200-13391000	Weak transcription	Aorta	Aorta
5	chr18:13383400-13409000	Weak transcription	Small Intestine	intestine
6	chr18:13383600-13390400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr18:13383600-13398600	Weak transcription	Pancreas	Pancrea
8	chr18:13383600-13410200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr18:13383600-13411800	Weak transcription	Esophagus	oesophagus
10	chr18:13383600-13421200	Weak transcription	Gastric	stomach
11	chr18:13383800-13412000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr18:13384000-13390600	Weak transcription	Brain Angular Gyrus	brain
13	chr18:13385000-13393400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr18:13385200-13405800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:13385600-13420800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr18:13387000-13391000	Strong transcription	Liver	Liver
17	chr18:13387200-13390600	Strong transcription	Dnd41	blood
18	chr18:13387400-13390800	Strong transcription	Primary T cells from cord blood	blood
19	chr18:13387600-13390400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr18:13387600-13390400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr18:13387800-13391000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr18:13387800-13391800	Genic enhancers	Fetal Thymus	thymus
23	chr18:13388000-13391000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:13388400-13390600	Strong transcription	Colon Smooth Muscle	Colon
25	chr18:13388400-13392600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr18:13388400-13399600	Weak transcription	Brain Germinal Matrix	brain
27	chr18:13388600-13390600	Genic enhancers	Right Ventricle	heart
28	chr18:13388600-13390800	Weak transcription	Brain Anterior Caudate	brain
29	chr18:13388600-13391000	Enhancers	Right Atrium	heart
30	chr18:13388800-13390400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:13388800-13390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:13388800-13390600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr18:13388800-13392800	Genic enhancers	Thymus	Thymus
34	chr18:13388800-13411800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr18:13388800-13416800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr18:13389000-13393800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr18:13389000-13394800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr18:13389000-13394800	Weak transcription	Brain Hippocampus Middle	brain
39	chr18:13389000-13412000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr18:13389200-13390600	Weak transcription	Fetal Brain Female	brain
41	chr18:13389200-13394800	Weak transcription	Fetal Heart	heart
42	chr18:13389200-13397800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:13389200-13410000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr18:13389400-13390400	Enhancers	Spleen	Spleen
45	chr18:13389400-13390600	Strong transcription	Fetal Stomach	stomach
46	chr18:13389400-13391200	Weak transcription	Brain Substantia Nigra	brain
47	chr18:13389400-13392000	Weak transcription	Colonic Mucosa	Colon
48	chr18:13389400-13394800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr18:13389400-13405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:13389400-13406000	Weak transcription	Adipose Nuclei	Adipose

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