Variant report

Variant	rs343
Chromosome Location	chr8:19810787-19810788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:19807869..19810930-chr8:19812485..19816612,3	K562	blood:
2	chr8:19805034..19807326-chr8:19809169..19811109,2	K562	blood:
3	chr8:19797563..19799546-chr8:19810189..19812255,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs255	0.88[MEX][hapmap]
rs256	0.80[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs271	1.00[ASW][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][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
rs343	LPL	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19798200-19818400	Weak transcription	K562	blood
2	chr8:19798600-19813400	Weak transcription	Ovary	ovary
3	chr8:19798600-19824200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:19799000-19813200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:19799800-19813000	Weak transcription	Fetal Brain Female	brain
6	chr8:19799800-19819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:19800800-19823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:19801400-19811000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:19802600-19811400	Weak transcription	Brain Germinal Matrix	brain
10	chr8:19802600-19813000	Weak transcription	Fetal Brain Male	brain
11	chr8:19804400-19819600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:19805000-19816600	Strong transcription	Fetal Lung	lung
13	chr8:19805000-19824800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:19805800-19824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:19806200-19816200	Weak transcription	Aorta	Aorta
16	chr8:19806400-19811200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:19806400-19819800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:19806800-19819600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:19807200-19812000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:19808600-19811600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:19808800-19811600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:19808800-19819600	Strong transcription	Left Ventricle	heart
23	chr8:19809000-19813800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:19809000-19817800	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:19809400-19812600	Weak transcription	Fetal Heart	heart
26	chr8:19809400-19813200	Strong transcription	Adipose Nuclei	Adipose
27	chr8:19809600-19819400	Weak transcription	Brain Anterior Caudate	brain
28	chr8:19809800-19810800	Weak transcription	Lung	lung
29	chr8:19810000-19816800	Strong transcription	Right Ventricle	heart
30	chr8:19810600-19814200	Strong transcription	Psoas Muscle	Psoas

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