Variant report

Variant	rs9954047
Chromosome Location	chr18:45663388-45663389
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10853562	0.81[EUR][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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3337566	chr18:45661104-45665102	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45660800-45665000	Active TSS	Rectal Smooth Muscle	rectum
2	chr18:45661400-45663800	Active TSS	Esophagus	oesophagus
3	chr18:45661800-45664000	Active TSS	Colonic Mucosa	Colon
4	chr18:45662000-45663400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr18:45662000-45663400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr18:45662000-45663400	Active TSS	Duodenum Mucosa	Duodenum
7	chr18:45662000-45663400	Bivalent/Poised TSS	Small Intestine	intestine
8	chr18:45662000-45663600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
9	chr18:45662000-45663600	Active TSS	Right Atrium	heart
10	chr18:45662000-45663800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr18:45662000-45663800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr18:45662000-45663800	Active TSS	Brain Anterior Caudate	brain
13	chr18:45662000-45663800	Active TSS	Gastric	stomach
14	chr18:45662000-45664000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr18:45662000-45664000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr18:45662000-45664000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr18:45662000-45664000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
18	chr18:45662000-45664000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr18:45662000-45664000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr18:45662000-45664000	Active TSS	Fetal Kidney	kidney
21	chr18:45662000-45664000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr18:45662000-45664200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr18:45662200-45663400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
24	chr18:45662200-45663600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:45662200-45663600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr18:45662200-45663600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:45662200-45663600	Active TSS	Aorta	Aorta
28	chr18:45662200-45663600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr18:45662200-45663600	Active TSS	Left Ventricle	heart
30	chr18:45662200-45663800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
31	chr18:45662200-45663800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:45662200-45663800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr18:45662200-45663800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:45662200-45663800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:45662200-45663800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr18:45662200-45663800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:45662200-45663800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr18:45662200-45663800	Active TSS	Stomach Mucosa	stomach
39	chr18:45662200-45664000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr18:45662400-45663600	Active TSS	Brain Substantia Nigra	brain
41	chr18:45662400-45663600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
42	chr18:45662400-45663600	Bivalent/Poised TSS	A549	lung
43	chr18:45662400-45663800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr18:45662400-45663800	Active TSS	Hela-S3	cervix
45	chr18:45662400-45663800	Flanking Active TSS	HMEC	breast
46	chr18:45662600-45663400	Enhancers	Primary B cells from cord blood	blood
47	chr18:45662600-45663600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:45662600-45663600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr18:45662600-45663600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:45662600-45663600	Active TSS	Pancreas	Pancrea

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