Variant report

Variant	rs2510766
Chromosome Location	chr4:95484190-95484191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95484063..95485618-chr4:95491587..95493317,2	MCF-7	breast:
2	chr4:95479917..95481634-chr4:95483291..95486276,2	K562	blood:
3	chr4:95377214..95379543-chr4:95483011..95484694,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10000208	0.86[EUR][1000 genomes]
rs10025074	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213504	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726587	0.87[ASN][1000 genomes]
rs11731606	0.87[ASN][1000 genomes]
rs12498904	0.87[ASN][1000 genomes]
rs2452581	1.00[ASN][1000 genomes]
rs2452593	0.81[YRI][hapmap];0.89[ASN][1000 genomes]
rs2510771	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416638	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3792664	0.85[EUR][1000 genomes]
rs3805271	0.89[ASN][1000 genomes]
rs3805272	0.89[ASN][1000 genomes]
rs3805274	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805283	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805286	0.87[ASN][1000 genomes]
rs6812098	0.88[EUR][1000 genomes]
rs6830074	0.88[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683990	0.87[ASN][1000 genomes]
rs9307144	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
rs2510766	PDLIM5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:95463000-95487800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:95470000-95489200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:95470400-95484800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:95470600-95489200	Weak transcription	Small Intestine	intestine
7	chr4:95479400-95484600	Enhancers	Osteobl	bone
8	chr4:95479800-95491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:95479800-95496800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:95480600-95488000	Enhancers	Liver	Liver
11	chr4:95481000-95484400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:95481200-95494600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:95481400-95485200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:95481400-95496800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:95481400-95496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:95481800-95484600	Enhancers	HSMM	muscle
17	chr4:95482000-95485200	Weak transcription	Aorta	Aorta
18	chr4:95482000-95485400	Weak transcription	Placenta	Placenta
19	chr4:95482200-95485200	Weak transcription	Left Ventricle	heart
20	chr4:95482200-95485400	Weak transcription	Psoas Muscle	Psoas
21	chr4:95482600-95484200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr4:95482600-95485400	Enhancers	HepG2	liver
23	chr4:95483000-95484800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:95483000-95485800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:95483000-95486400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:95483200-95486200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:95483200-95488400	Enhancers	HUVEC	blood vessel
28	chr4:95483200-95488800	Weak transcription	K562	blood
29	chr4:95483400-95485200	Weak transcription	Right Atrium	heart
30	chr4:95483400-95491600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:95483400-95491800	Weak transcription	Brain Anterior Caudate	brain
32	chr4:95483400-95496600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:95483400-95496800	Weak transcription	NHEK	skin
34	chr4:95483400-95524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:95483600-95496200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:95483800-95485400	Weak transcription	A549	lung
37	chr4:95483800-95486000	Weak transcription	Right Ventricle	heart
38	chr4:95483800-95488800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:95483800-95491800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:95483800-95496600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:95483800-95496800	Weak transcription	Gastric	stomach
42	chr4:95483800-95497000	Weak transcription	HMEC	breast
43	chr4:95484000-95485200	Weak transcription	Ovary	ovary
44	chr4:95484000-95485400	Weak transcription	Fetal Heart	heart
45	chr4:95484000-95485600	Weak transcription	Fetal Intestine Small	intestine
46	chr4:95484000-95485600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:95484000-95488600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:95484000-95488800	Weak transcription	Adipose Nuclei	Adipose
49	chr4:95484000-95488800	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:95484000-95489000	Weak transcription	Stomach Mucosa	stomach

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