Variant report

Variant	rs3133966
Chromosome Location	chr8:110749713-110749714
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	chr8:110749174..110750778-chr8:110751641..110754082,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs3102253	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3102254	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3108845	0.89[ASN][1000 genomes]
rs3108848	0.91[ASN][1000 genomes]
rs3108872	0.91[ASN][1000 genomes]
rs3108874	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108875	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3108879	0.80[ASN][1000 genomes]
rs3133943	0.91[ASN][1000 genomes]
rs3133945	0.91[ASN][1000 genomes]
rs3133949	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3133962	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133963	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3133965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133967	0.80[ASN][1000 genomes]
rs3133969	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3134342	0.83[ASN][1000 genomes]
rs35327785	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4515520	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3133966	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110747400-110750800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr8:110747400-110754600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:110748200-110750600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:110748400-110749800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:110748400-110749800	Weak transcription	Adipose Nuclei	Adipose
6	chr8:110748400-110752400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:110748600-110750800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:110748600-110750800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:110749000-110750800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:110749200-110750400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:110749200-110750400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:110749200-110750800	Enhancers	NHEK	skin
13	chr8:110749400-110750000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:110749400-110750800	Enhancers	HMEC	breast
15	chr8:110749600-110749800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:110749600-110750200	Enhancers	Fetal Heart	heart
17	chr8:110749600-110750200	Enhancers	A549	lung
18	chr8:110749600-110750400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:110749600-110750400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:110749600-110750400	Enhancers	Placenta	Placenta
21	chr8:110749600-110750400	Enhancers	NH-A	brain
22	chr8:110749600-110750600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:110749600-110750800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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