Variant report

Variant	rs3134332
Chromosome Location	chr8:110703413-110703414
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	chr8:110656100..110658662-chr8:110702004..110704480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248050	Chromatin interaction
ENSG00000147642	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10100734	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13270118	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1954713	0.82[EUR][1000 genomes]
rs2154656	0.82[EUR][1000 genomes]
rs2703383	0.82[EUR][1000 genomes]
rs2844243	0.82[EUR][1000 genomes]
rs3108830	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3108834	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108835	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108836	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3108841	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3108855	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3108867	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3133920	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133923	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3133931	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133933	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3133938	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3133939	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134316	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3134318	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3134326	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134328	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3134329	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3134333	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3134335	0.85[EUR][1000 genomes]
rs3134336	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3134337	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134338	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34147744	0.82[EUR][1000 genomes]
rs34649979	0.82[EUR][1000 genomes]
rs35642643	0.82[EUR][1000 genomes]
rs71526740	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3134332	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110701600-110704000	Active TSS	Fetal Brain Female	brain
2	chr8:110701800-110705600	Enhancers	Fetal Brain Male	brain
3	chr8:110702400-110704600	Active TSS	Duodenum Mucosa	Duodenum
4	chr8:110702600-110704000	Active TSS	Brain Anterior Caudate	brain
5	chr8:110702600-110704400	Active TSS	Brain Angular Gyrus	brain
6	chr8:110702600-110704400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:110702600-110704600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr8:110702600-110705000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:110702800-110704800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr8:110703000-110704400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr8:110703000-110704400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:110703000-110704400	Active TSS	Brain Cingulate Gyrus	brain
13	chr8:110703000-110705000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
14	chr8:110703200-110703600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr8:110703200-110703600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:110703200-110703600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:110703200-110703600	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr8:110703200-110703600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
19	chr8:110703200-110703600	Bivalent Enhancer	Esophagus	oesophagus
20	chr8:110703200-110703600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr8:110703200-110703600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr8:110703200-110703600	Enhancers	Ovary	ovary
23	chr8:110703200-110703600	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr8:110703200-110703800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:110703200-110704000	Bivalent/Poised TSS	Fetal Stomach	stomach
26	chr8:110703200-110704200	Bivalent Enhancer	Liver	Liver
27	chr8:110703200-110704400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr8:110703200-110704400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:110703200-110704400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr8:110703200-110704400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
31	chr8:110703200-110704400	Active TSS	Rectal Smooth Muscle	rectum
32	chr8:110703200-110704400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr8:110703200-110704600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr8:110703200-110704600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:110703200-110704600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:110703200-110704600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr8:110703200-110704600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:110703400-110703600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:110703400-110703600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr8:110703400-110703600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:110703400-110703600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:110703400-110703600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr8:110703400-110703600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr8:110703400-110703600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
45	chr8:110703400-110703600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr8:110703400-110703600	Flanking Active TSS	Gastric	stomach
47	chr8:110703400-110703600	Bivalent Enhancer	Lung	lung
48	chr8:110703400-110703600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr8:110703400-110703600	Flanking Active TSS	Psoas Muscle	Psoas
50	chr8:110703400-110703600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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