Variant report

Variant	rs4243279
Chromosome Location	chr18:43865298-43865299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11082512	0.82[CHB][hapmap]
rs11082518	0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs11082519	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12457516	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12604963	0.83[CHB][hapmap]
rs12605945	0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs12607898	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs12709736	0.82[ASN][1000 genomes]
rs12962307	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs12963943	0.85[ASN][1000 genomes]
rs12967694	0.82[CHB][hapmap]
rs12969147	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs3744858	0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[ASN][1000 genomes]
rs4453596	0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[YRI][hapmap]
rs4542747	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs4890321	0.83[ASN][1000 genomes]
rs4890628	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4890629	0.95[CHB][hapmap];0.89[CHD][hapmap];0.84[ASN][1000 genomes]
rs4890632	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs4890635	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6507675	0.83[CHB][hapmap]
rs6507679	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs6507692	0.83[ASN][1000 genomes]
rs718513	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs7227847	0.81[ASN][1000 genomes]
rs7231820	0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs7234695	0.95[CHB][hapmap]
rs7239351	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs7240354	0.83[ASN][1000 genomes]
rs7241527	0.89[CHB][hapmap];0.80[JPT][hapmap]
rs7242375	0.91[CHB][hapmap];0.89[CHD][hapmap]
rs7245091	0.91[CHB][hapmap];0.89[CHD][hapmap]
rs7506126	0.83[CHB][hapmap]
rs8084309	0.95[CHB][hapmap];0.89[CHD][hapmap]
rs8086610	0.81[ASN][1000 genomes]
rs8086956	0.95[CHB][hapmap];0.89[CHD][hapmap];0.82[ASN][1000 genomes]
rs8087419	0.87[EUR][1000 genomes]
rs8088306	0.86[EUR][1000 genomes]
rs8090542	0.80[ASN][1000 genomes]
rs8094706	0.95[CHB][hapmap];0.89[CHD][hapmap]
rs8095142	0.83[ASN][1000 genomes]
rs9944715	0.95[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs9945783	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs9947206	0.83[ASN][1000 genomes]
rs9949494	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs9952469	0.95[CHB][hapmap];0.83[ASN][1000 genomes]
rs9959526	0.83[CHB][hapmap];0.83[CHD][hapmap]
rs9961457	0.88[EUR][1000 genomes]
rs9963843	0.89[CHB][hapmap]
rs9967229	0.83[CHB][hapmap];0.83[CHD][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4243279	C18orf25	Cis_1M	lymphoblastoid	RTeQTL
rs4243279	PSTPIP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43842200-43869800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr18:43852200-43879000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr18:43853000-43877800	Weak transcription	Primary T cells from cord blood	blood
4	chr18:43857000-43877800	Weak transcription	Aorta	Aorta
5	chr18:43859200-43869400	Weak transcription	Left Ventricle	heart
6	chr18:43860400-43873000	Weak transcription	Fetal Heart	heart
7	chr18:43862400-43870200	Weak transcription	Liver	Liver
8	chr18:43863600-43870600	Weak transcription	Spleen	Spleen
9	chr18:43864200-43869000	Weak transcription	Psoas Muscle	Psoas
10	chr18:43864400-43865600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:43864400-43865800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:43864400-43869800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr18:43864400-43873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr18:43864600-43865800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:43864800-43866000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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