Variant report

Variant	rs11745083
Chromosome Location	chr5:114628098-114628099
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr5:114627737-114628110	K562	blood:	n/a	n/a
2	SETDB1	chr5:114627690-114628123	U2OS	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114623240..114626730-chr5:114627807..114632536,6	MCF-7	breast:
2	chr5:114615132..114617908-chr5:114626623..114628858,2	K562	blood:
3	chr5:114626278..114629451-chr5:114630853..114633217,3	K562	blood:
4	chr5:114626278..114630090-chr5:114630456..114633226,5	K562	blood:
5	chr5:114619634..114629040-chr5:114629951..114633566,14	MCF-7	breast:
6	chr5:114590810..114593401-chr5:114627414..114629564,2	MCF-7	breast:
7	chr5:114627696..114629421-chr5:114959972..114962333,2	K562	blood:

No data

Variant related genes	Relation type
HMGN1P15	TF binding region
ENSG00000164221	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000250197	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10045548	0.86[EUR][1000 genomes]
rs10059069	0.86[EUR][1000 genomes]
rs10076833	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs10079380	0.84[EUR][1000 genomes]
rs11745170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17640052	0.88[EUR][1000 genomes]
rs2303001	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs265437	0.89[JPT][hapmap]
rs267297	0.82[CEU][hapmap]
rs267298	0.82[CEU][hapmap]
rs3805580	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs3805581	0.90[EUR][1000 genomes]
rs3805586	0.89[JPT][hapmap]
rs6594883	0.93[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67276221	0.89[EUR][1000 genomes]
rs6878733	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs6884828	0.80[ASN][1000 genomes]
rs6886102	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[EUR][1000 genomes]
rs6894392	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7706217	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7725831	1.00[CEU][hapmap];0.85[CHB][hapmap];0.84[EUR][1000 genomes]
rs9326954	1.00[CEU][hapmap];0.87[EUR][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11745083	PGGT1B	cis	normal skin	skin_eQTL
rs11745083	PGGT1B	Cis_1M	lymphoblastoid	RTeQTL
rs11745083	PGGT1B	cis	multi-tissue	Pritchard

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114599000-114630800	Weak transcription	Psoas Muscle	Psoas
2	chr5:114599000-114631200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:114599000-114631200	Weak transcription	HSMM	muscle
4	chr5:114599000-114631400	Weak transcription	Left Ventricle	heart
5	chr5:114599200-114631200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:114601200-114631200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:114601200-114631400	Weak transcription	Aorta	Aorta
8	chr5:114604000-114630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:114611200-114630400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:114611200-114630400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:114611200-114630800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr5:114611400-114628600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:114612800-114630200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:114621400-114628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:114621600-114628400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:114621600-114630400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:114622400-114630200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:114625200-114628200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:114625400-114630600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:114625400-114630800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr5:114627000-114631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:114627400-114630600	Weak transcription	NHLF	lung
23	chr5:114627600-114629000	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr5:114627800-114629000	ZNF genes & repeats	Fetal Brain Male	brain
25	chr5:114628000-114631200	Weak transcription	Fetal Kidney	kidney

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