Variant report

Variant	rs1134984
Chromosome Location	chr4:95586405-95586406
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95581174..95583133-chr4:95584760..95587422,2	K562	blood:
2	chr4:95585740..95587732-chr4:95591128..95592898,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10010013	0.91[AFR][1000 genomes]
rs10014050	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10025288	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10025410	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10049504	0.83[EUR][1000 genomes]
rs1043862	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1056772	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11097432	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11550270	0.93[EUR][1000 genomes]
rs12294	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331809	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12331835	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12331920	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1509617	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17021981	0.83[EUR][1000 genomes]
rs1802345	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs28376560	0.90[EUR][1000 genomes]
rs28376694	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs28479946	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28654759	0.92[EUR][1000 genomes]
rs28709926	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6840428	0.83[EUR][1000 genomes]
rs7285	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7655928	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7656545	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1134984	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95525000-95590000	Weak transcription	Lung	lung
2	chr4:95527800-95592200	Weak transcription	Pancreas	Pancrea
3	chr4:95533800-95594200	Weak transcription	Gastric	stomach
4	chr4:95537600-95592800	Weak transcription	Fetal Stomach	stomach
5	chr4:95538200-95586600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:95538600-95587000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:95540000-95587000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:95540200-95597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr4:95541200-95595600	Weak transcription	Primary T cells from cord blood	blood
10	chr4:95549000-95586600	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:95557200-95588600	Weak transcription	GM12878-XiMat	blood
12	chr4:95559000-95590200	Weak transcription	Right Ventricle	heart
13	chr4:95563600-95589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:95564000-95587000	Weak transcription	NHLF	lung
15	chr4:95564000-95595000	Weak transcription	NHDF-Ad	bronchial
16	chr4:95567800-95587400	Weak transcription	HepG2	liver
17	chr4:95570800-95599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:95571400-95587400	Weak transcription	Fetal Kidney	kidney
19	chr4:95572400-95588800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:95573600-95595000	Weak transcription	Small Intestine	intestine
21	chr4:95574600-95587000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr4:95574800-95591600	Weak transcription	Stomach Mucosa	stomach
23	chr4:95575000-95590800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:95575800-95590200	Strong transcription	Osteobl	bone
25	chr4:95576200-95598000	Weak transcription	Aorta	Aorta
26	chr4:95576200-95598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:95576600-95586800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:95577000-95586800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:95578000-95586800	Strong transcription	HUVEC	blood vessel
30	chr4:95578200-95588200	Strong transcription	Placenta	Placenta
31	chr4:95578400-95586600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:95578600-95589200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:95578600-95593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:95579000-95592400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:95580000-95597800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:95580200-95586800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:95581400-95590000	Strong transcription	NH-A	brain
38	chr4:95582000-95587000	Weak transcription	HSMMtube	muscle
39	chr4:95582000-95595400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:95582000-95599800	Weak transcription	NHEK	skin
41	chr4:95582400-95592200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:95582400-95594200	Weak transcription	Esophagus	oesophagus
43	chr4:95582400-95596200	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:95582400-95598200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:95582600-95589600	Strong transcription	Liver	Liver
46	chr4:95582600-95593800	Weak transcription	Ovary	ovary
47	chr4:95582600-95600000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:95582800-95598000	Weak transcription	Fetal Heart	heart
49	chr4:95583200-95586600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:95583800-95586800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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