Variant report

Variant	rs28483450
Chromosome Location	chr18:43537145-43537146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11872710	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11872746	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11872802	0.89[AMR][1000 genomes];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	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28504009	1.00[EUR][1000 genomes]
rs28563782	1.00[EUR][1000 genomes]
rs28605020	1.00[EUR][1000 genomes]
rs28669237	1.00[EUR][1000 genomes]
rs28698347	1.00[EUR][1000 genomes]
rs28757795	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28898882	1.00[EUR][1000 genomes]
rs28898887	1.00[EUR][1000 genomes]
rs28898895	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	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8094456	1.00[EUR][1000 genomes]
rs9946629	1.00[EUR][1000 genomes]
rs9946802	1.00[EUR][1000 genomes]
rs9947795	1.00[EUR][1000 genomes]
rs9948555	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[EUR][1000 genomes]
rs9955015	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	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9959239	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9960635	1.00[EUR][1000 genomes]
rs9961926	1.00[EUR][1000 genomes]
rs9964753	1.00[EUR][1000 genomes]
rs9964968	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	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 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	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
3	chr18:43519200-43546600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:43519800-43539400	Weak transcription	A549	lung
5	chr18:43528600-43540000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:43529000-43546400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:43534200-43537200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:43534200-43545600	Weak transcription	Fetal Brain Male	brain
9	chr18:43534400-43537800	Genic enhancers	HSMM	muscle
10	chr18:43534400-43540800	Weak transcription	Fetal Heart	heart
11	chr18:43534600-43546600	Weak transcription	Gastric	stomach
12	chr18:43535000-43546400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:43535000-43546400	Weak transcription	GM12878-XiMat	blood
14	chr18:43535200-43537400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:43535200-43537600	Weak transcription	Ovary	ovary
16	chr18:43535200-43538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr18:43535200-43538800	Weak transcription	Left Ventricle	heart
18	chr18:43535200-43538800	Weak transcription	Psoas Muscle	Psoas
19	chr18:43535200-43539200	Weak transcription	Pancreas	Pancrea
20	chr18:43535200-43540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr18:43535200-43540200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr18:43535200-43540200	Weak transcription	Thymus	Thymus
23	chr18:43535200-43541000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr18:43535200-43541000	Weak transcription	Aorta	Aorta
25	chr18:43535200-43541000	Weak transcription	Esophagus	oesophagus
26	chr18:43535200-43541000	Weak transcription	Lung	lung
27	chr18:43535200-43542000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr18:43535200-43542000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr18:43535200-43542000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr18:43535200-43542200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:43535200-43542400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr18:43535200-43542600	Weak transcription	K562	blood
33	chr18:43535200-43543000	Weak transcription	Right Ventricle	heart
34	chr18:43535200-43543200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr18:43535200-43545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:43535200-43545200	Weak transcription	Brain Hippocampus Middle	brain
37	chr18:43535200-43545200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:43535200-43545400	Weak transcription	Brain Angular Gyrus	brain
39	chr18:43535200-43545600	Weak transcription	Brain Germinal Matrix	brain
40	chr18:43535200-43545600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr18:43535200-43545600	Weak transcription	Small Intestine	intestine
42	chr18:43535200-43546000	Weak transcription	Fetal Intestine Small	intestine
43	chr18:43535200-43546200	Weak transcription	HUVEC	blood vessel
44	chr18:43535200-43546400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:43535200-43546400	Weak transcription	Colon Smooth Muscle	Colon
46	chr18:43535200-43546400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr18:43535200-43546400	Weak transcription	Fetal Stomach	stomach
48	chr18:43535200-43546400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr18:43535200-43546600	Weak transcription	Spleen	Spleen
50	chr18:43535400-43537200	Weak transcription	Fetal Kidney	kidney

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