Variant report

Variant	rs2964251
Chromosome Location	chr5:152068621-152068622
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10477025	0.88[ASN][1000 genomes]
rs12054984	0.86[ASN][1000 genomes]
rs12055147	0.86[ASN][1000 genomes]
rs12655008	0.81[ASN][1000 genomes]
rs2961752	0.87[ASN][1000 genomes]
rs2961753	0.88[ASN][1000 genomes]
rs2964233	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2964244	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964245	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2964253	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2964254	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2964260	0.81[ASN][1000 genomes]
rs2964263	0.86[ASN][1000 genomes]
rs34106489	0.86[ASN][1000 genomes]
rs34790040	0.88[ASN][1000 genomes]
rs4457062	0.89[ASN][1000 genomes]
rs7733725	0.86[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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152067600-152070400	Enhancers	HMEC	breast
2	chr5:152067800-152069000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:152068000-152068800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:152068000-152068800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:152068000-152069200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:152068000-152069200	Enhancers	NH-A	brain
7	chr5:152068000-152069600	Enhancers	NHEK	skin
8	chr5:152068000-152069800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:152068000-152070600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:152068200-152068800	Enhancers	Osteobl	bone
11	chr5:152068200-152069000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:152068200-152069200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:152068200-152069200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:152068200-152069200	Enhancers	HSMM	muscle
15	chr5:152068200-152069800	Enhancers	Fetal Kidney	kidney
16	chr5:152068200-152070800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:152068400-152068800	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:152068400-152068800	Enhancers	HSMMtube	muscle
19	chr5:152068400-152069200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:152068400-152069400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:152068400-152069800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:152068600-152069000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:152068600-152069000	Enhancers	Colon Smooth Muscle	Colon
24	chr5:152068600-152069000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr5:152068600-152069200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:152068600-152069800	Enhancers	Esophagus	oesophagus
27	chr5:152068600-152070800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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