Variant report

Variant	rs2510773
Chromosome Location	chr4:95469308-95469309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95382790..95385673-chr4:95467254..95469616,3	K562	blood:
2	chr4:95460434..95462251-chr4:95467361..95469680,2	MCF-7	breast:
3	chr4:95464708..95469426-chr4:95470140..95474023,5	K562	blood:
4	chr4:95382396..95384171-chr4:95466994..95469392,2	K562	blood:
5	chr4:95466562..95469843-chr4:95470075..95473924,5	K562	blood:

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

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

rs_ID	r²[population]
rs12510147	0.92[EUR][1000 genomes]
rs1493112	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2162346	0.85[ASN][1000 genomes]
rs2452009	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2452578	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2452583	0.93[ASN][1000 genomes]
rs2452597	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2452598	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2452599	0.94[EUR][1000 genomes]
rs2452600	0.91[EUR][1000 genomes]
rs2510770	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2510778	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2577056	0.92[ASN][1000 genomes]
rs3133150	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35044129	0.94[EUR][1000 genomes]
rs4699540	0.88[EUR][1000 genomes]
rs66542996	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6845201	0.93[EUR][1000 genomes]
rs7682375	0.93[EUR][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
rs2510773	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 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	chr4:95456800-95469800	Weak transcription	Ovary	ovary
5	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:95457400-95469800	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:95457400-95470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:95458000-95469800	Weak transcription	Small Intestine	intestine
11	chr4:95458000-95480400	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:95458400-95469800	Weak transcription	Fetal Intestine Large	intestine
15	chr4:95459000-95473000	Weak transcription	Fetal Kidney	kidney
16	chr4:95459000-95480400	Weak transcription	Adipose Nuclei	Adipose
17	chr4:95459600-95471000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:95459800-95481200	Weak transcription	Aorta	Aorta
19	chr4:95460200-95472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:95460400-95469800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:95462600-95470200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:95463000-95469600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:95463000-95469600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:95463000-95480400	Weak transcription	Right Ventricle	heart
25	chr4:95463000-95487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:95463200-95470000	Weak transcription	Fetal Intestine Small	intestine
27	chr4:95463200-95481200	Weak transcription	Left Ventricle	heart
28	chr4:95466000-95470000	Weak transcription	Placenta	Placenta
29	chr4:95466000-95474800	Weak transcription	Psoas Muscle	Psoas
30	chr4:95466000-95475000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:95467000-95471800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:95467200-95469400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:95467600-95469800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:95467600-95479400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr4:95468200-95470400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:95468400-95469600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:95468400-95469600	Genic enhancers	NH-A	brain
38	chr4:95468400-95469600	Enhancers	NHEK	skin
39	chr4:95468400-95469800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
40	chr4:95468400-95469800	Genic enhancers	K562	blood
41	chr4:95468400-95470400	Enhancers	HepG2	liver
42	chr4:95468400-95470800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:95468400-95471000	Enhancers	Hela-S3	cervix
44	chr4:95468600-95469600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:95468600-95469600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:95468600-95469800	Enhancers	Liver	Liver
47	chr4:95468600-95470000	Enhancers	HSMMtube	muscle
48	chr4:95468600-95470400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:95468600-95470800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:95468600-95470800	Genic enhancers	HSMM	muscle

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