Variant report

Variant	rs9954523
Chromosome Location	chr18:43441578-43441579
allele	C/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	GATA2	chr18:43441397-43441584	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
EPG5	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11872710	1.00[EUR][1000 genomes]
rs11872746	1.00[EUR][1000 genomes]
rs11872802	1.00[EUR][1000 genomes]
rs11873365	1.00[EUR][1000 genomes]
rs11875230	1.00[EUR][1000 genomes]
rs11877436	1.00[EUR][1000 genomes]
rs16978476	1.00[EUR][1000 genomes]
rs16978492	1.00[EUR][1000 genomes]
rs16978493	1.00[EUR][1000 genomes]
rs16978494	1.00[EUR][1000 genomes]
rs16978505	1.00[EUR][1000 genomes]
rs28366995	1.00[EUR][1000 genomes]
rs28372661	1.00[EUR][1000 genomes]
rs28438661	1.00[EUR][1000 genomes]
rs28450604	1.00[EUR][1000 genomes]
rs28460769	1.00[EUR][1000 genomes]
rs28461979	1.00[EUR][1000 genomes]
rs28483450	1.00[EUR][1000 genomes]
rs28504009	1.00[EUR][1000 genomes]
rs28563782	1.00[EUR][1000 genomes]
rs28605020	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28669237	1.00[EUR][1000 genomes]
rs28698347	1.00[EUR][1000 genomes]
rs28757795	1.00[EUR][1000 genomes]
rs28898876	1.00[EUR][1000 genomes]
rs28898881	1.00[EUR][1000 genomes]
rs28898882	1.00[EUR][1000 genomes]
rs28898887	1.00[EUR][1000 genomes]
rs28898895	1.00[EUR][1000 genomes]
rs28994273	1.00[EUR][1000 genomes]
rs28994285	1.00[EUR][1000 genomes]
rs28994287	1.00[EUR][1000 genomes]
rs28994295	1.00[EUR][1000 genomes]
rs34674177	1.00[EUR][1000 genomes]
rs515596	1.00[EUR][1000 genomes]
rs56193937	1.00[EUR][1000 genomes]
rs7228878	1.00[EUR][1000 genomes]
rs7229410	1.00[EUR][1000 genomes]
rs7236728	1.00[EUR][1000 genomes]
rs7242125	1.00[EUR][1000 genomes]
rs7243454	1.00[EUR][1000 genomes]
rs73953681	1.00[EUR][1000 genomes]
rs8084290	1.00[EUR][1000 genomes]
rs8089544	1.00[EUR][1000 genomes]
rs8089798	1.00[EUR][1000 genomes]
rs8089860	1.00[EUR][1000 genomes]
rs8090934	1.00[EUR][1000 genomes]
rs8094456	1.00[EUR][1000 genomes]
rs9946629	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9946802	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9947795	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9948555	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9948715	1.00[EUR][1000 genomes]
rs9951978	1.00[EUR][1000 genomes]
rs9953484	1.00[EUR][1000 genomes]
rs9955015	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9957147	1.00[EUR][1000 genomes]
rs9957464	1.00[EUR][1000 genomes]
rs9957999	1.00[EUR][1000 genomes]
rs9958360	1.00[EUR][1000 genomes]
rs9958987	1.00[EUR][1000 genomes]
rs9959151	1.00[EUR][1000 genomes]
rs9959239	1.00[EUR][1000 genomes]
rs9960635	1.00[EUR][1000 genomes]
rs9961926	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9964753	1.00[EUR][1000 genomes]
rs9964968	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9965236	1.00[EUR][1000 genomes]
rs9965728	1.00[EUR][1000 genomes]
rs9966061	1.00[EUR][1000 genomes]
rs9967557	1.00[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	nsv525268	chr18:42748365-43474795	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43420200-43491800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:43420800-43442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:43426400-43446000	Weak transcription	Stomach Mucosa	stomach
4	chr18:43427000-43441600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr18:43428000-43448400	Strong transcription	Primary T cells from cord blood	blood
6	chr18:43428200-43448200	Strong transcription	Placenta	Placenta
7	chr18:43428200-43455600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:43428400-43448400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr18:43428400-43467800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr18:43428600-43442800	Strong transcription	Thymus	Thymus
11	chr18:43428600-43448800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:43429000-43448200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr18:43429000-43454600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:43429000-43464800	Strong transcription	Fetal Intestine Large	intestine
15	chr18:43429200-43443600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:43429200-43444000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:43429200-43448200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr18:43429200-43448400	Strong transcription	Dnd41	blood
19	chr18:43429200-43451800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr18:43429200-43451800	Strong transcription	Fetal Thymus	thymus
21	chr18:43429200-43453200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:43429200-43454400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr18:43429200-43462400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr18:43429200-43464800	Strong transcription	HSMM	muscle
25	chr18:43429200-43473200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:43429400-43444600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr18:43429400-43453000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr18:43429400-43454200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:43429400-43454600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr18:43429400-43468600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr18:43429600-43448400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:43429800-43448200	Strong transcription	Primary B cells from cord blood	blood
33	chr18:43431200-43448200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:43431200-43448200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr18:43431600-43454600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr18:43431600-43456800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:43432000-43444000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr18:43432000-43448200	Strong transcription	Brain Anterior Caudate	brain
39	chr18:43432000-43448400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr18:43432000-43470400	Strong transcription	Adipose Nuclei	Adipose
41	chr18:43432200-43447600	Strong transcription	Brain Hippocampus Middle	brain
42	chr18:43432200-43448200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr18:43432200-43448400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:43432200-43451200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:43432400-43448200	Strong transcription	NHLF	lung
46	chr18:43432600-43442400	Weak transcription	Fetal Heart	heart
47	chr18:43432800-43445800	Strong transcription	Liver	Liver
48	chr18:43433200-43450200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr18:43434600-43441800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr18:43435600-43458400	Weak transcription	Psoas Muscle	Psoas

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