Variant report

Variant	rs9307144
Chromosome Location	chr4:95479064-95479065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10025074	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10213504	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11726587	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11731606	0.83[ASN][1000 genomes]
rs12498904	0.83[ASN][1000 genomes]
rs2452581	0.95[ASN][1000 genomes]
rs2452593	0.85[ASN][1000 genomes]
rs2510766	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2510771	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28416638	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3805271	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3805272	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3805274	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805283	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3805286	0.83[ASN][1000 genomes]
rs4590045	0.80[AMR][1000 genomes]
rs6830074	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7683990	0.83[ASN][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
rs9307144	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:45 , 50 per page) page: 1

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	chr4:95458000-95480400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:95459000-95480400	Weak transcription	Adipose Nuclei	Adipose
7	chr4:95459800-95481200	Weak transcription	Aorta	Aorta
8	chr4:95463000-95480400	Weak transcription	Right Ventricle	heart
9	chr4:95463000-95487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:95463200-95481200	Weak transcription	Left Ventricle	heart
11	chr4:95467600-95479400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:95470000-95489200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:95470400-95479600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:95470400-95479600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:95470400-95480400	Weak transcription	NHLF	lung
16	chr4:95470400-95482600	Weak transcription	HepG2	liver
17	chr4:95470400-95484800	Weak transcription	Fetal Intestine Large	intestine
18	chr4:95470600-95479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:95470600-95480800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:95470600-95483600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:95470600-95489200	Weak transcription	Small Intestine	intestine
22	chr4:95470800-95479200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:95471000-95479200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:95471000-95480200	Weak transcription	HMEC	breast
25	chr4:95471000-95480400	Weak transcription	Hela-S3	cervix
26	chr4:95471000-95480600	Weak transcription	Placenta	Placenta
27	chr4:95471200-95480600	Weak transcription	Right Atrium	heart
28	chr4:95472600-95481600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:95473000-95480400	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:95473200-95479200	Weak transcription	K562	blood
31	chr4:95473200-95479400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:95473200-95480400	Weak transcription	HSMMtube	muscle
33	chr4:95473400-95480600	Weak transcription	Liver	Liver
34	chr4:95473800-95479400	Weak transcription	NH-A	brain
35	chr4:95474000-95479600	Weak transcription	HSMM	muscle
36	chr4:95474000-95480200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:95475000-95479200	Weak transcription	NHEK	skin
38	chr4:95475400-95479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:95475800-95479400	Weak transcription	Osteobl	bone
40	chr4:95476000-95479400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:95476600-95479200	Weak transcription	Fetal Heart	heart
42	chr4:95476600-95479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:95476800-95479400	Weak transcription	HUVEC	blood vessel
44	chr4:95477000-95479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:95479000-95480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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