Variant report

Variant	rs1542827
Chromosome Location	chr8:20129465-20129466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20117486..20119981-chr8:20127285..20130227,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11985274	0.90[MEX][hapmap];0.86[TSI][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11995187	0.90[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes]
rs56256118	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs57092179	0.85[AMR][1000 genomes]
rs60124846	0.85[AMR][1000 genomes]
rs60828034	0.85[AMR][1000 genomes]
rs62499971	0.89[AMR][1000 genomes]
rs62499972	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62499973	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62499974	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62499975	0.86[AMR][1000 genomes]
rs62499976	0.86[AMR][1000 genomes]
rs62499980	0.85[AMR][1000 genomes]
rs62499981	0.85[AMR][1000 genomes]
rs62499982	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1542827	PEBP4	cis	cerebellum	SCAN
rs1542827	BMP1	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20120600-20132800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr8:20124200-20130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:20124200-20130600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:20124200-20130800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:20125400-20129800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:20126400-20130400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:20126400-20132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:20126600-20129600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr8:20126600-20130000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:20126600-20130400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:20126600-20131000	Enhancers	Esophagus	oesophagus
12	chr8:20126600-20132200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:20126600-20132400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:20126600-20132600	Enhancers	Placenta	Placenta
15	chr8:20126600-20135200	Weak transcription	Right Ventricle	heart
16	chr8:20126600-20136200	Enhancers	Fetal Thymus	thymus
17	chr8:20126800-20129600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:20126800-20129800	Enhancers	Brain Anterior Caudate	brain
19	chr8:20126800-20130000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:20126800-20130000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:20126800-20130200	Weak transcription	Spleen	Spleen
22	chr8:20126800-20130400	Enhancers	NHLF	lung
23	chr8:20126800-20130800	Enhancers	HMEC	breast
24	chr8:20126800-20131200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr8:20126800-20135200	Weak transcription	Lung	lung
26	chr8:20126800-20135200	Weak transcription	Right Atrium	heart
27	chr8:20126800-20135400	Weak transcription	Left Ventricle	heart
28	chr8:20127000-20129800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr8:20127000-20130200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr8:20127000-20130200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:20127000-20130600	Weak transcription	Thymus	Thymus
32	chr8:20127200-20129600	Enhancers	Brain Germinal Matrix	brain
33	chr8:20127200-20130400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:20127200-20131200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:20127200-20131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:20127400-20129600	Weak transcription	Primary T cells from cord blood	blood
37	chr8:20127400-20129800	Weak transcription	NHDF-Ad	bronchial
38	chr8:20127400-20130000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
39	chr8:20127400-20130200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr8:20127400-20130800	Weak transcription	HSMMtube	muscle
41	chr8:20127600-20129600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr8:20127600-20130600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr8:20127600-20131000	Enhancers	Fetal Brain Female	brain
44	chr8:20127600-20134400	Weak transcription	Fetal Intestine Small	intestine
45	chr8:20128200-20129600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:20128200-20131600	Weak transcription	Fetal Kidney	kidney
47	chr8:20128400-20130200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:20128600-20129600	Enhancers	Dnd41	blood
49	chr8:20128800-20129600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr8:20128800-20129600	Enhancers	Fetal Intestine Large	intestine

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