Variant report

Variant	rs2452592
Chromosome Location	chr4:95481367-95481368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95474428..95476516-chr4:95479995..95482160,2	K562	blood:
2	chr4:95479530..95482092-chr4:95487778..95489313,2	K562	blood:
3	chr4:95479917..95481634-chr4:95483291..95486276,2	K562	blood:
4	chr4:95472261..95474248-chr4:95480587..95483073,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10015716	0.83[EUR][1000 genomes]
rs1043848	0.80[EUR][1000 genomes]
rs10590	0.80[EUR][1000 genomes]
rs1493112	0.80[ASN][1000 genomes]
rs17021918	0.83[EUR][1000 genomes]
rs2162346	0.82[ASN][1000 genomes]
rs2280003	0.81[EUR][1000 genomes]
rs2452578	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2452591	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510767	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2510770	0.81[ASN][1000 genomes]
rs3133150	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3762876	0.80[EUR][1000 genomes]
rs7674144	0.83[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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2452592	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr4:95463000-95487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:95470000-95489200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:95470400-95482600	Weak transcription	HepG2	liver
8	chr4:95470400-95484800	Weak transcription	Fetal Intestine Large	intestine
9	chr4:95470600-95483600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:95470600-95489200	Weak transcription	Small Intestine	intestine
11	chr4:95472600-95481600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:95479200-95481400	Enhancers	NHEK	skin
13	chr4:95479200-95484000	Enhancers	Fetal Heart	heart
14	chr4:95479400-95481400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:95479400-95483400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:95479400-95484000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:95479400-95484000	Enhancers	NH-A	brain
18	chr4:95479400-95484600	Enhancers	Osteobl	bone
19	chr4:95479800-95491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:95479800-95496800	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:95480200-95481400	Enhancers	K562	blood
22	chr4:95480200-95483800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:95480200-95483800	Enhancers	HMEC	breast
24	chr4:95480200-95484000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:95480400-95481400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:95480400-95481400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr4:95480400-95481400	Enhancers	Colon Smooth Muscle	Colon
28	chr4:95480400-95481400	Enhancers	Right Ventricle	heart
29	chr4:95480400-95482000	Enhancers	A549	lung
30	chr4:95480400-95482600	Enhancers	Adipose Nuclei	Adipose
31	chr4:95480400-95483400	Enhancers	NHLF	lung
32	chr4:95480600-95481400	Flanking Active TSS	HSMMtube	muscle
33	chr4:95480600-95482000	Enhancers	Placenta	Placenta
34	chr4:95480600-95482200	Enhancers	Psoas Muscle	Psoas
35	chr4:95480600-95482400	Enhancers	Right Atrium	heart
36	chr4:95480600-95482600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:95480600-95483800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr4:95480600-95488000	Enhancers	Liver	Liver
39	chr4:95480800-95481400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr4:95480800-95483000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:95481000-95481600	Genic enhancers	HUVEC	blood vessel
42	chr4:95481000-95481800	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr4:95481000-95481800	Genic enhancers	HSMM	muscle
44	chr4:95481000-95482200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:95481000-95483600	Enhancers	NHDF-Ad	bronchial
46	chr4:95481000-95484400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:95481200-95481400	Enhancers	Aorta	Aorta
48	chr4:95481200-95481400	Enhancers	Brain Substantia Nigra	brain
49	chr4:95481200-95481400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr4:95481200-95481600	Weak transcription	Hela-S3	cervix

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