Variant report

Variant	rs12457516
Chromosome Location	chr18:43862893-43862894
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11082519	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12608232	0.83[ASN][1000 genomes]
rs12962951	0.85[ASN][1000 genomes]
rs12963787	0.87[ASN][1000 genomes]
rs1808946	0.88[ASN][1000 genomes]
rs36191490	0.88[ASN][1000 genomes]
rs4243279	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4453594	0.85[ASN][1000 genomes]
rs4574015	0.87[ASN][1000 genomes]
rs4890319	0.88[ASN][1000 genomes]
rs4890320	0.88[ASN][1000 genomes]
rs4890626	0.84[ASN][1000 genomes]
rs4890631	0.88[ASN][1000 genomes]
rs4890633	0.88[ASN][1000 genomes]
rs4890634	0.88[ASN][1000 genomes]
rs4890635	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62098160	0.86[ASN][1000 genomes]
rs6507690	0.86[ASN][1000 genomes]
rs6507691	0.86[ASN][1000 genomes]
rs6507693	0.88[ASN][1000 genomes]
rs718514	0.88[ASN][1000 genomes]
rs7228365	0.88[ASN][1000 genomes]
rs7230154	0.88[ASN][1000 genomes]
rs7230995	0.85[ASN][1000 genomes]
rs7231430	0.88[ASN][1000 genomes]
rs8084829	0.81[ASN][1000 genomes]
rs8087419	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8088306	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8093407	0.88[ASN][1000 genomes]
rs8094070	0.88[ASN][1000 genomes]
rs8095799	0.83[ASN][1000 genomes]
rs8098751	0.88[ASN][1000 genomes]
rs8099202	0.88[ASN][1000 genomes]
rs9675387	0.87[ASN][1000 genomes]
rs9807157	0.88[ASN][1000 genomes]
rs9944767	0.88[ASN][1000 genomes]
rs9944836	0.88[ASN][1000 genomes]
rs9948282	0.83[ASN][1000 genomes]
rs9951624	0.88[ASN][1000 genomes]
rs9952654	0.88[ASN][1000 genomes]
rs9956574	0.83[ASN][1000 genomes]
rs9959813	0.88[ASN][1000 genomes]
rs9959905	0.87[ASN][1000 genomes]
rs9960378	0.87[ASN][1000 genomes]
rs9961457	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9963153	0.88[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	nsv1064031	chr18:43782309-43878806	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12457516	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43831400-43863200	Weak transcription	Fetal Intestine Small	intestine
2	chr18:43841000-43864200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr18:43842200-43869800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr18:43845600-43863000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr18:43845600-43863600	Weak transcription	Brain Anterior Caudate	brain
6	chr18:43847200-43863200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr18:43852200-43879000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr18:43853000-43877800	Weak transcription	Primary T cells from cord blood	blood
9	chr18:43854400-43863000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:43854400-43863200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:43854400-43863200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr18:43854600-43863000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr18:43855400-43863200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:43855600-43863000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:43857000-43877800	Weak transcription	Aorta	Aorta
16	chr18:43858200-43863000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:43858400-43863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:43858800-43863000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr18:43858800-43863000	Weak transcription	Psoas Muscle	Psoas
20	chr18:43859000-43863200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr18:43859000-43863200	Weak transcription	Spleen	Spleen
22	chr18:43859000-43863400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr18:43859200-43863000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr18:43859200-43863000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:43859200-43869400	Weak transcription	Left Ventricle	heart
26	chr18:43859400-43863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:43860400-43873000	Weak transcription	Fetal Heart	heart
28	chr18:43861400-43863800	Enhancers	K562	blood
29	chr18:43861400-43864400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr18:43861400-43864400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr18:43861400-43864600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr18:43861400-43864600	Enhancers	Hela-S3	cervix
33	chr18:43861800-43863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr18:43861800-43863400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:43861800-43864800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:43862000-43863600	Weak transcription	Esophagus	oesophagus
37	chr18:43862200-43863000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:43862400-43870200	Weak transcription	Liver	Liver
39	chr18:43862600-43863400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr18:43862600-43864400	Enhancers	Fetal Muscle Leg	muscle
41	chr18:43862800-43864400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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