Variant report

Variant	rs9948555
Chromosome Location	chr18:43450358-43450359
allele	A/G
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	GATA3	chr18:43450173-43450373	SH-SY5Y	brain:	n/a	chr18:43450176-43450185

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	0.96[AFR][1000 genomes];1.00[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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs515596	1.00[EUR][1000 genomes]
rs56193937	1.00[EUR][1000 genomes]
rs7228878	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7229410	1.00[EUR][1000 genomes]
rs7236728	0.83[AMR][1000 genomes];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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9946802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9947795	1.00[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]
rs9954523	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9955015	0.89[AFR][1000 genomes];1.00[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];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9964753	1.00[EUR][1000 genomes]
rs9964968	0.92[AFR][1000 genomes];1.00[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:123 , 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	chr18:43428200-43455600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:43428400-43467800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr18:43429000-43454600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr18:43429000-43464800	Strong transcription	Fetal Intestine Large	intestine
6	chr18:43429200-43451800	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr18:43429200-43451800	Strong transcription	Fetal Thymus	thymus
8	chr18:43429200-43453200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:43429200-43454400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:43429200-43462400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr18:43429200-43464800	Strong transcription	HSMM	muscle
12	chr18:43429200-43473200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:43429400-43453000	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr18:43429400-43454200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:43429400-43454600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr18:43429400-43468600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr18:43431600-43454600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr18:43431600-43456800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:43432000-43470400	Strong transcription	Adipose Nuclei	Adipose
20	chr18:43432200-43451200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr18:43435600-43458400	Weak transcription	Psoas Muscle	Psoas
22	chr18:43437000-43451400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:43440600-43454800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr18:43440600-43489600	Weak transcription	Small Intestine	intestine
25	chr18:43442200-43457200	Strong transcription	Fetal Muscle Leg	muscle
26	chr18:43442400-43451000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:43442600-43451600	Strong transcription	Osteobl	bone
29	chr18:43443600-43457800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr18:43444000-43450800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr18:43444800-43450800	Strong transcription	Hela-S3	cervix
32	chr18:43445600-43478000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr18:43445800-43483800	Weak transcription	K562	blood
34	chr18:43446200-43454400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:43446200-43479400	Weak transcription	Fetal Brain Male	brain
36	chr18:43446600-43452200	Weak transcription	A549	lung
37	chr18:43446800-43450400	Weak transcription	Brain Germinal Matrix	brain
38	chr18:43446800-43456000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr18:43447000-43450400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:43447000-43451200	Weak transcription	Fetal Heart	heart
41	chr18:43447000-43454600	Weak transcription	Gastric	stomach
42	chr18:43447000-43460400	Weak transcription	Pancreas	Pancrea
43	chr18:43447000-43478400	Weak transcription	Stomach Mucosa	stomach
44	chr18:43447000-43491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr18:43447400-43451400	Weak transcription	HMEC	breast
46	chr18:43447400-43455000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr18:43447600-43454600	Weak transcription	Esophagus	oesophagus
48	chr18:43447600-43454800	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:43447600-43464000	Weak transcription	Aorta	Aorta
50	chr18:43447600-43469000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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