Variant report

Variant	rs2452581
Chromosome Location	chr4:95463956-95463957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95455231..95457643-chr4:95461903..95464194,2	K562	blood:
2	chr4:95372341..95373893-chr4:95463516..95466280,2	MCF-7	breast:
3	chr4:95457924..95459634-chr4:95461855..95464045,2	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10025074	1.00[ASN][1000 genomes]
rs10213504	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11726587	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11731606	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12498904	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2452593	0.89[ASN][1000 genomes]
rs2510766	1.00[ASN][1000 genomes]
rs2510771	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28416638	0.88[ASN][1000 genomes]
rs3805271	0.89[ASN][1000 genomes]
rs3805272	0.89[ASN][1000 genomes]
rs3805274	1.00[ASN][1000 genomes]
rs3805283	1.00[ASN][1000 genomes]
rs3805286	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805288	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3828523	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6830074	1.00[ASN][1000 genomes]
rs7683990	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9307144	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer 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
rs2452581	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 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	chr4:95442000-95469600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:95449200-95470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95450400-95465800	Weak transcription	Lung	lung
5	chr4:95453800-95465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:95456800-95465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:95456800-95469800	Weak transcription	Ovary	ovary
8	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:95457400-95465800	Weak transcription	Pancreas	Pancrea
11	chr4:95457400-95469800	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:95457400-95470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:95457600-95465600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:95457800-95466400	Weak transcription	Brain Substantia Nigra	brain
16	chr4:95458000-95469800	Weak transcription	Small Intestine	intestine
17	chr4:95458000-95480400	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:95458200-95465600	Weak transcription	NHLF	lung
19	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:95458400-95465200	Weak transcription	HepG2	liver
22	chr4:95458400-95468600	Weak transcription	Liver	Liver
23	chr4:95458400-95469800	Weak transcription	Fetal Intestine Large	intestine
24	chr4:95459000-95465200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:95459000-95473000	Weak transcription	Fetal Kidney	kidney
26	chr4:95459000-95480400	Weak transcription	Adipose Nuclei	Adipose
27	chr4:95459600-95464600	Weak transcription	HSMM	muscle
28	chr4:95459600-95471000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:95459800-95465200	Weak transcription	NH-A	brain
30	chr4:95459800-95465200	Weak transcription	NHDF-Ad	bronchial
31	chr4:95459800-95466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:95459800-95481200	Weak transcription	Aorta	Aorta
33	chr4:95460000-95464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:95460000-95466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:95460200-95472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:95460400-95464600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:95460400-95465600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr4:95460400-95469800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:95460800-95464800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:95462200-95466400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:95462200-95468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:95462400-95465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:95462400-95465200	Weak transcription	NHEK	skin
44	chr4:95462400-95466000	Weak transcription	K562	blood
45	chr4:95462600-95465200	Weak transcription	A549	lung
46	chr4:95462600-95465400	Weak transcription	HMEC	breast
47	chr4:95462600-95470200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:95462800-95465000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:95462800-95465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:95462800-95465600	Weak transcription	HSMMtube	muscle

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