Variant report

Variant	rs327
Chromosome Location	chr8:19819536-19819537
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19796366..19798853-chr8:19819344..19821479,2	K562	blood:

Variant related genes	Relation type
ENSG00000175445	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10105606	0.95[ASN][1000 genomes]
rs11986942	0.96[ASN][1000 genomes]
rs13702	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1372340	0.87[ASN][1000 genomes]
rs1372343	0.87[ASN][1000 genomes]
rs1372344	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441753	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441754	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1441755	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441756	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441757	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441758	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441762	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441763	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1441764	0.96[ASN][1000 genomes]
rs1441766	0.96[ASN][1000 genomes]
rs15285	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1569213	0.85[ASN][1000 genomes]
rs17411031	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17411045	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17411126	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17411133	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17411168	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17489268	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17489282	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17489373	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17489539	0.86[ASN][1000 genomes]
rs1819092	0.83[ASN][1000 genomes]
rs1822200	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1837842	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1837843	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1919484	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1992442	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1992443	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2009493	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2083636	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2083637	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119689	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2165558	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2410618	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2410619	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2410620	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410621	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2410623	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2410625	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2410627	0.88[ASN][1000 genomes]
rs2410628	0.86[ASN][1000 genomes]
rs2410629	0.88[ASN][1000 genomes]
rs2410630	0.85[ASN][1000 genomes]
rs287	0.98[ASN][1000 genomes]
rs289	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898495	0.88[ASN][1000 genomes]
rs291	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs295	0.90[CEU][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs297	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs301	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap]
rs304	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs305	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314	1.00[ASN][1000 genomes]
rs320	0.89[CEU][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3208305	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs322	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs326	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs331	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34327087	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34345068	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34499461	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34564316	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34693282	0.87[ASN][1000 genomes]
rs34932218	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34942551	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35237252	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35369244	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35465966	0.87[ASN][1000 genomes]
rs35495249	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35617716	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35687633	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35739466	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3844510	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3916027	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4083261	0.96[ASN][1000 genomes]
rs4126104	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4320561	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4333617	0.85[ASN][1000 genomes]
rs4335137	0.83[ASN][1000 genomes]
rs4375019	0.85[ASN][1000 genomes]
rs4406409	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4425772	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4593558	0.88[ASN][1000 genomes]
rs4628269	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4644277	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4922117	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4922118	0.86[ASN][1000 genomes]
rs4922119	0.86[ASN][1000 genomes]
rs6586886	0.85[ASN][1000 genomes]
rs6986010	0.86[ASN][1000 genomes]
rs7013777	0.83[ASN][1000 genomes]
rs73208815	0.85[ASN][1000 genomes]
rs7461115	0.88[ASN][1000 genomes]
rs765547	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs765548	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs765549	0.96[ASN][1000 genomes]
rs894211	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs920588	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs920589	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9644637	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9644638	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv890632	chr8:19816371-19853146	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs327	LPL	cis	multi-tissue	Pritchard

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19798600-19824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:19799800-19819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:19800800-19823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:19804400-19819600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:19805000-19824800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:19805800-19824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:19806400-19819800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:19806800-19819600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:19808800-19819600	Strong transcription	Left Ventricle	heart
10	chr8:19811800-19822400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:19811800-19826000	Weak transcription	Brain Germinal Matrix	brain
12	chr8:19813600-19823000	Weak transcription	Fetal Brain Male	brain
13	chr8:19814200-19820000	Weak transcription	Psoas Muscle	Psoas
14	chr8:19814200-19821600	Weak transcription	Fetal Brain Female	brain
15	chr8:19814800-19822800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:19816000-19819600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:19816800-19819600	Weak transcription	Right Ventricle	heart
18	chr8:19817000-19820200	Weak transcription	Lung	lung
19	chr8:19817000-19824800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:19818400-19820400	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:19818400-19822800	Strong transcription	Fetal Lung	lung
22	chr8:19818800-19819600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:19819000-19819600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr8:19819000-19820600	Genic enhancers	Fetal Heart	heart
25	chr8:19819200-19820000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr8:19819200-19820400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:19819200-19820400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:19819200-19820600	Genic enhancers	Adipose Nuclei	Adipose
29	chr8:19819200-19820800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:19819200-19821000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:19819400-19820200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr8:19819400-19820200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:19819400-19820400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:19819400-19820400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:19819400-19820400	Enhancers	Brain Anterior Caudate	brain
36	chr8:19819400-19820600	Enhancers	Primary B cells from peripheral blood	blood
37	chr8:19819400-19820600	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:19819400-19820600	Strong transcription	Ovary	ovary
39	chr8:19819400-19820800	Enhancers	H9 Cell Line	embryonic stem cell

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