Variant report

Variant	rs2510770
Chromosome Location	chr4:95479372-95479373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12510147	0.87[EUR][1000 genomes]
rs1493112	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2452009	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2452578	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2452583	0.86[ASN][1000 genomes]
rs2452591	0.81[ASN][1000 genomes]
rs2452592	0.81[ASN][1000 genomes]
rs2452597	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2452598	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2452599	0.87[EUR][1000 genomes]
rs2452600	0.87[EUR][1000 genomes]
rs2510767	0.81[ASN][1000 genomes]
rs2510773	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510778	0.84[ASN][1000 genomes]
rs3133150	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35044129	0.87[EUR][1000 genomes]
rs4699540	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66542996	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6845201	0.89[EUR][1000 genomes]
rs7682375	0.89[EUR][1000 genomes]
rs9684901	0.90[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
rs2510770	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 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	chr4:95471000-95480200	Weak transcription	HMEC	breast
23	chr4:95471000-95480400	Weak transcription	Hela-S3	cervix
24	chr4:95471000-95480600	Weak transcription	Placenta	Placenta
25	chr4:95471200-95480600	Weak transcription	Right Atrium	heart
26	chr4:95472600-95481600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:95473000-95480400	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:95473200-95479400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:95473200-95480400	Weak transcription	HSMMtube	muscle
30	chr4:95473400-95480600	Weak transcription	Liver	Liver
31	chr4:95473800-95479400	Weak transcription	NH-A	brain
32	chr4:95474000-95479600	Weak transcription	HSMM	muscle
33	chr4:95474000-95480200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:95475400-95479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:95475800-95479400	Weak transcription	Osteobl	bone
36	chr4:95476000-95479400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:95476600-95479400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:95476800-95479400	Weak transcription	HUVEC	blood vessel
39	chr4:95477000-95479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:95479000-95480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:95479200-95479800	Enhancers	K562	blood
42	chr4:95479200-95480400	Enhancers	Muscle Satellite Cultured Cells	--
43	chr4:95479200-95480600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:95479200-95481200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr4:95479200-95481400	Enhancers	NHEK	skin
46	chr4:95479200-95484000	Enhancers	Fetal Heart	heart

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