Variant report

Variant	rs6452943
Chromosome Location	chr5:90472912-90472913
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	chr5:90471497..90473890-chr5:90676230..90677792,2	MCF-7	breast:
2	chr5:90470576..90474856-chr5:90676109..90680019,6	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10065773	1.00[EUR][1000 genomes]
rs16869348	1.00[TSI][hapmap]
rs16869400	1.00[EUR][1000 genomes]
rs16869402	1.00[EUR][1000 genomes]
rs16869424	1.00[EUR][1000 genomes]
rs16869431	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16869437	1.00[EUR][1000 genomes]
rs16869489	1.00[EUR][1000 genomes]
rs59753442	1.00[EUR][1000 genomes]
rs6879069	1.00[EUR][1000 genomes]
rs6897191	1.00[EUR][1000 genomes]
rs7702079	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7702715	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7712139	1.00[EUR][1000 genomes]
rs7712353	1.00[EUR][1000 genomes]
rs7722301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7723655	1.00[EUR][1000 genomes]
rs7726939	1.00[EUR][1000 genomes]
rs7731268	1.00[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6452943	PGPEP1L	trans	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90462600-90473800	Weak transcription	Osteobl	bone
2	chr5:90465600-90473400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:90467600-90485600	Weak transcription	Fetal Intestine Small	intestine
4	chr5:90468000-90473200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:90468000-90478400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:90470000-90473200	Enhancers	Colon Smooth Muscle	Colon
7	chr5:90471400-90473200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:90471600-90473000	Enhancers	Brain Germinal Matrix	brain
9	chr5:90471600-90473200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:90471600-90473200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:90471800-90473400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:90471800-90473400	Weak transcription	NHLF	lung
13	chr5:90472200-90473000	Enhancers	Primary B cells from peripheral blood	blood
14	chr5:90472200-90474000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:90472400-90473000	Weak transcription	Fetal Stomach	stomach
16	chr5:90472400-90473200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:90472400-90473200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:90472400-90478600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:90472600-90473000	Enhancers	HSMMtube	muscle
20	chr5:90472600-90473200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:90472600-90473200	Enhancers	Placenta	Placenta
22	chr5:90472600-90473200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:90472600-90473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:90472600-90474200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:90472800-90473000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:90472800-90473200	Flanking Active TSS	Fetal Heart	heart
27	chr5:90472800-90474000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:90472800-90478200	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:90472800-90478400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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