Variant report

Variant	rs9291708
Chromosome Location	chr5:60524585-60524586
allele	C/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]
rs10939887	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2270822	0.82[MKK][hapmap]
rs4428365	1.00[EUR][1000 genomes]
rs4458537	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4505907	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs61288496	0.91[EUR][1000 genomes]
rs61554378	0.83[EUR][1000 genomes]
rs6866414	0.83[EUR][1000 genomes]
rs6892223	0.91[EUR][1000 genomes]
rs7446462	0.91[EUR][1000 genomes]
rs764066	0.91[EUR][1000 genomes]
rs764067	0.91[EUR][1000 genomes]
rs7718028	0.82[MKK][hapmap]
rs7723754	0.82[MKK][hapmap]
rs9291709	1.00[EUR][1000 genomes]
rs9291711	1.00[EUR][1000 genomes]
rs9885353	1.00[EUR][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60523600-60525600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:60523600-60525600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:60523600-60525600	Enhancers	Gastric	stomach
4	chr5:60523600-60526200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:60523600-60526800	Enhancers	Pancreas	Pancrea
6	chr5:60523800-60525600	Enhancers	Lung	lung
7	chr5:60524000-60524600	Flanking Active TSS	Stomach Mucosa	stomach
8	chr5:60524000-60525200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:60524000-60525200	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:60524000-60525200	Enhancers	Osteobl	bone
11	chr5:60524000-60525400	Enhancers	HSMM	muscle
12	chr5:60524000-60525400	Enhancers	NHEK	skin
13	chr5:60524000-60525600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:60524000-60525600	Enhancers	HMEC	breast
15	chr5:60524000-60525800	Enhancers	NHLF	lung
16	chr5:60524000-60526800	Enhancers	Esophagus	oesophagus
17	chr5:60524200-60524600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:60524200-60524600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:60524200-60524600	Enhancers	Hela-S3	cervix
20	chr5:60524200-60524600	Enhancers	HSMMtube	muscle
21	chr5:60524200-60525000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:60524200-60525000	Enhancers	K562	blood
23	chr5:60524200-60525400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:60524200-60525400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:60524200-60525400	Enhancers	GM12878-XiMat	blood
26	chr5:60524200-60525600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:60524200-60525800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:60524200-60525800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr5:60524200-60525800	Enhancers	HUVEC	blood vessel
30	chr5:60524200-60527000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:60524400-60524800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:60524400-60524800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr5:60524400-60524800	Flanking Active TSS	NH-A	brain
34	chr5:60524400-60525400	Enhancers	Brain Angular Gyrus	brain
35	chr5:60524400-60525400	Enhancers	Brain Cingulate Gyrus	brain
36	chr5:60524400-60525600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:60524400-60525600	Enhancers	Fetal Muscle Trunk	muscle
38	chr5:60524400-60525600	Enhancers	Fetal Thymus	thymus

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