Variant report

Variant	rs6894392
Chromosome Location	chr5:114624349-114624350
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	chr5:114623240..114626730-chr5:114627807..114632536,6	MCF-7	breast:
2	chr5:114619634..114629040-chr5:114629951..114633566,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11745083	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11745170	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11960213	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3805586	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62383165	0.83[EUR][1000 genomes]
rs62383168	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6594883	0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv968978	chr5:114620599-114625007	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6894392	PGGT1B	Cis_1M	lymphoblastoid	RTeQTL
rs6894392	PGGT1B	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114599000-114626600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:114599000-114630800	Weak transcription	Psoas Muscle	Psoas
3	chr5:114599000-114631200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:114599000-114631200	Weak transcription	HSMM	muscle
5	chr5:114599000-114631400	Weak transcription	Left Ventricle	heart
6	chr5:114599200-114631200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:114601200-114631200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:114601200-114631400	Weak transcription	Aorta	Aorta
9	chr5:114604000-114630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:114611200-114630400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:114611200-114630400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr5:114611200-114630800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:114611400-114627600	Weak transcription	Primary B cells from cord blood	blood
14	chr5:114611400-114628600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:114612400-114625000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:114612800-114630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:114621400-114628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:114621600-114628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:114621600-114630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:114622200-114625000	Weak transcription	Brain Hippocampus Middle	brain
21	chr5:114622200-114625400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:114622400-114630200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:114624200-114625400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr5:114624200-114625400	Enhancers	Monocytes-CD14+_RO01746	blood

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