Variant report

Variant	rs11986942
Chromosome Location	chr8:19867445-19867446
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10105606	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13702	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1372340	0.91[ASN][1000 genomes]
rs1372341	0.83[ASN][1000 genomes]
rs1372343	0.91[ASN][1000 genomes]
rs1372344	1.00[ASN][1000 genomes]
rs1441753	1.00[ASN][1000 genomes]
rs1441754	0.99[ASN][1000 genomes]
rs1441755	1.00[ASN][1000 genomes]
rs1441756	1.00[ASN][1000 genomes]
rs1441757	1.00[ASN][1000 genomes]
rs1441758	1.00[ASN][1000 genomes]
rs1441762	1.00[ASN][1000 genomes]
rs1441763	1.00[ASN][1000 genomes]
rs1441764	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441766	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs15285	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap]
rs1569213	0.89[ASN][1000 genomes]
rs17411031	1.00[ASN][1000 genomes]
rs17411045	1.00[ASN][1000 genomes]
rs17411126	1.00[ASN][1000 genomes]
rs17411133	1.00[ASN][1000 genomes]
rs17411168	1.00[ASN][1000 genomes]
rs17489268	1.00[ASN][1000 genomes]
rs17489282	1.00[ASN][1000 genomes]
rs17489373	1.00[ASN][1000 genomes]
rs17489539	0.90[ASN][1000 genomes]
rs1819092	0.87[ASN][1000 genomes]
rs1819094	0.83[ASN][1000 genomes]
rs1822200	1.00[ASN][1000 genomes]
rs1837842	1.00[ASN][1000 genomes]
rs1837843	1.00[ASN][1000 genomes]
rs1919484	0.99[ASN][1000 genomes]
rs1992442	1.00[ASN][1000 genomes]
rs1992443	1.00[ASN][1000 genomes]
rs2009493	1.00[ASN][1000 genomes]
rs2083636	1.00[ASN][1000 genomes]
rs2083637	1.00[ASN][1000 genomes]
rs2119689	1.00[ASN][1000 genomes]
rs2165558	0.92[ASN][1000 genomes]
rs2410618	1.00[ASN][1000 genomes]
rs2410619	1.00[ASN][1000 genomes]
rs2410620	0.98[ASN][1000 genomes]
rs2410621	0.98[ASN][1000 genomes]
rs2410623	1.00[ASN][1000 genomes]
rs2410625	1.00[ASN][1000 genomes]
rs2410627	0.92[ASN][1000 genomes]
rs2410628	0.90[ASN][1000 genomes]
rs2410629	0.92[ASN][1000 genomes]
rs2410630	0.89[ASN][1000 genomes]
rs287	0.94[ASN][1000 genomes]
rs289	0.94[ASN][1000 genomes]
rs2898495	0.92[ASN][1000 genomes]
rs291	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs295	0.81[CEU][hapmap];0.94[ASN][1000 genomes]
rs297	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs301	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs304	0.96[ASN][1000 genomes]
rs305	0.96[ASN][1000 genomes]
rs314	0.96[ASN][1000 genomes]
rs320	0.96[ASN][1000 genomes]
rs3208305	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs322	0.96[ASN][1000 genomes]
rs326	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs327	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs331	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs34327087	1.00[ASN][1000 genomes]
rs34345068	1.00[ASN][1000 genomes]
rs34499461	0.99[ASN][1000 genomes]
rs34564316	1.00[ASN][1000 genomes]
rs34693282	0.91[ASN][1000 genomes]
rs34932218	1.00[ASN][1000 genomes]
rs34942551	0.99[ASN][1000 genomes]
rs35237252	0.97[ASN][1000 genomes]
rs35369244	0.99[ASN][1000 genomes]
rs35465966	0.91[ASN][1000 genomes]
rs35495249	1.00[ASN][1000 genomes]
rs35617716	0.97[ASN][1000 genomes]
rs35687633	1.00[ASN][1000 genomes]
rs35739466	0.99[ASN][1000 genomes]
rs3844510	1.00[ASN][1000 genomes]
rs3916027	0.99[ASN][1000 genomes]
rs4083261	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4126104	1.00[ASN][1000 genomes]
rs4320561	0.98[ASN][1000 genomes]
rs4333617	0.89[ASN][1000 genomes]
rs4335137	0.87[ASN][1000 genomes]
rs4375019	0.89[ASN][1000 genomes]
rs4406409	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425772	1.00[ASN][1000 genomes]
rs4593558	0.92[ASN][1000 genomes]
rs4628269	1.00[ASN][1000 genomes]
rs4644277	1.00[ASN][1000 genomes]
rs4922117	1.00[ASN][1000 genomes]
rs4922118	0.90[ASN][1000 genomes]
rs4922119	0.90[ASN][1000 genomes]
rs6586886	0.89[ASN][1000 genomes]
rs6986010	0.90[ASN][1000 genomes]
rs7013777	0.87[ASN][1000 genomes]
rs73208815	0.89[ASN][1000 genomes]
rs7461115	0.92[ASN][1000 genomes]
rs765547	1.00[ASN][1000 genomes]
rs765548	1.00[ASN][1000 genomes]
rs765549	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894211	1.00[ASN][1000 genomes]
rs920588	1.00[ASN][1000 genomes]
rs920589	1.00[ASN][1000 genomes]
rs9644637	1.00[ASN][1000 genomes]
rs9644638	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498082	chr8:19722435-19873112	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv32767	chr8:19740189-19873082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11986942	LPL	cis	multi-tissue	Pritchard

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19865600-19869400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:19865600-19869600	Weak transcription	Placenta	Placenta
3	chr8:19865600-19869800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:19865600-19877000	Weak transcription	Left Ventricle	heart
5	chr8:19865800-19868200	Weak transcription	Fetal Lung	lung
6	chr8:19866200-19868400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:19866600-19869000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:19866600-19869200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:19866600-19869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:19866600-19869600	Weak transcription	Fetal Heart	heart
11	chr8:19867400-19869600	Weak transcription	Psoas Muscle	Psoas
12	chr8:19867400-19881800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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