Variant report

Variant	rs17468987
Chromosome Location	chr18:25691459-25691460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10853682	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083249	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11083250	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11564310	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11564336	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11564381	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11872284	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874384	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12185349	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12453985	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12454164	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12454769	1.00[ASN][1000 genomes]
rs12457737	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12457781	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12458840	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12458872	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12953509	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12969129	1.00[ASN][1000 genomes]
rs1443449	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17446505	1.00[ASN][1000 genomes]
rs17446547	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17468924	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17469001	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860642	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2067772	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4800842	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089347	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8095341	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2761996	chr18:24866083-25818618	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25687200-25699800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:25687400-25693000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr18:25687400-25696800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr18:25687600-25693000	Enhancers	Liver	Liver
5	chr18:25687600-25694200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:25687800-25692400	Enhancers	Fetal Brain Female	brain
7	chr18:25687800-25693000	Enhancers	Brain Germinal Matrix	brain
8	chr18:25688000-25691600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:25688000-25692800	Enhancers	Brain Hippocampus Middle	brain
10	chr18:25688000-25693200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:25688200-25693000	Enhancers	Brain Anterior Caudate	brain
12	chr18:25688200-25694000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr18:25688400-25691600	Weak transcription	Fetal Intestine Large	intestine
14	chr18:25688400-25691800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr18:25688400-25692000	Enhancers	HSMM	muscle
16	chr18:25688400-25692200	Enhancers	NH-A	brain
17	chr18:25688400-25693000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:25689200-25692000	Enhancers	A549	lung
19	chr18:25689200-25692000	Weak transcription	HepG2	liver
20	chr18:25689800-25691600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:25689800-25693000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:25689800-25693000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr18:25689800-25695600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr18:25690000-25691600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:25690000-25692800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr18:25690200-25695000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:25690200-25695000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr18:25690400-25691600	Weak transcription	Fetal Lung	lung
29	chr18:25690400-25692600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr18:25690800-25692200	Enhancers	Fetal Heart	heart
31	chr18:25690800-25695200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr18:25691000-25692000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:25691000-25692000	Weak transcription	Brain Angular Gyrus	brain
34	chr18:25691000-25692200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr18:25691000-25692200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr18:25691000-25693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:25691000-25693800	Enhancers	NHLF	lung
38	chr18:25691000-25696600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr18:25691200-25692000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:25691200-25692200	Enhancers	HSMMtube	muscle
41	chr18:25691200-25692600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:25691200-25694600	Weak transcription	Right Ventricle	heart
43	chr18:25691200-25695000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr18:25691200-25695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr18:25691200-25695200	Weak transcription	Right Atrium	heart
46	chr18:25691400-25691800	Weak transcription	Brain Substantia Nigra	brain
47	chr18:25691400-25691800	Weak transcription	Ovary	ovary
48	chr18:25691400-25692000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr18:25691400-25692000	Enhancers	HUVEC	blood vessel
50	chr18:25691400-25692200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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