Variant report

Variant	rs9953484
Chromosome Location	chr18:43462886-43462887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

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	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11877436	1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28460769	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28461979	1.00[EUR][1000 genomes]
rs28479138	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483450	1.00[EUR][1000 genomes]
rs28504009	1.00[EUR][1000 genomes]
rs28563782	1.00[EUR][1000 genomes]
rs28605020	1.00[EUR][1000 genomes]
rs28669237	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28698347	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7242434	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7243454	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];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	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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9957999	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9958360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9958987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9959151	1.00[EUR][1000 genomes]
rs9959239	1.00[EUR][1000 genomes]
rs9960635	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9966061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9967557	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];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	chr18:43428400-43467800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:43429000-43464800	Strong transcription	Fetal Intestine Large	intestine
4	chr18:43429200-43464800	Strong transcription	HSMM	muscle
5	chr18:43429200-43473200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:43429400-43468600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr18:43432000-43470400	Strong transcription	Adipose Nuclei	Adipose
8	chr18:43440600-43489600	Weak transcription	Small Intestine	intestine
9	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr18:43445600-43478000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr18:43445800-43483800	Weak transcription	K562	blood
12	chr18:43446200-43479400	Weak transcription	Fetal Brain Male	brain
13	chr18:43447000-43478400	Weak transcription	Stomach Mucosa	stomach
14	chr18:43447000-43491800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:43447600-43464000	Weak transcription	Aorta	Aorta
16	chr18:43447600-43469000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:43448200-43464000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr18:43448200-43464200	Weak transcription	Brain Angular Gyrus	brain
19	chr18:43449600-43465000	Strong transcription	Duodenum Mucosa	Duodenum
20	chr18:43449600-43465000	Strong transcription	Placenta	Placenta
21	chr18:43450800-43478000	Weak transcription	Right Ventricle	heart
22	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr18:43452000-43479000	Weak transcription	HMEC	breast
24	chr18:43452200-43464800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr18:43452400-43470400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:43452800-43464800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:43453400-43470400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr18:43454400-43463600	Weak transcription	Hela-S3	cervix
29	chr18:43454800-43463800	Weak transcription	Esophagus	oesophagus
30	chr18:43455000-43467200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:43455000-43469000	Weak transcription	Colonic Mucosa	Colon
32	chr18:43455200-43464200	Weak transcription	Gastric	stomach
33	chr18:43455400-43463000	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:43455400-43464000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr18:43455600-43476400	Strong transcription	Primary T cells from cord blood	blood
37	chr18:43455800-43463600	Weak transcription	Brain Substantia Nigra	brain
38	chr18:43456000-43469200	Weak transcription	A549	lung
39	chr18:43456200-43464800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:43456400-43464200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:43456400-43465000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:43456400-43465000	Strong transcription	Dnd41	blood
43	chr18:43456400-43469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr18:43456400-43490200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr18:43456400-43498000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr18:43456600-43467200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr18:43456600-43473600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr18:43456800-43463000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:43457000-43464200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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