Variant report

Variant	rs6594350
Chromosome Location	chr5:108516901-108516902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12517902	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13179986	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4445019	0.88[ASN][1000 genomes]
rs6594349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6875865	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7708636	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7730149	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[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	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1027163	chr5:108445447-108839913	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2756048	chr5:108448101-108542101	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108468800-108521800	Weak transcription	Aorta	Aorta
2	chr5:108476000-108519200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:108481600-108535000	Weak transcription	Left Ventricle	heart
4	chr5:108496000-108532800	Weak transcription	Ovary	ovary
5	chr5:108497800-108517400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:108500200-108527000	Weak transcription	HSMMtube	muscle
7	chr5:108501000-108521800	Weak transcription	Primary T cells from cord blood	blood
8	chr5:108502200-108522200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:108503200-108526800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:108503600-108526200	Weak transcription	Fetal Heart	heart
11	chr5:108503600-108540400	Weak transcription	Psoas Muscle	Psoas
12	chr5:108505000-108535200	Weak transcription	Pancreas	Pancrea
13	chr5:108509000-108521600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:108509200-108523200	Weak transcription	HSMM	muscle
15	chr5:108510600-108521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:108512000-108521800	Weak transcription	NHEK	skin
17	chr5:108512200-108521800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:108513400-108522000	Weak transcription	Fetal Brain Female	brain
19	chr5:108513600-108521600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:108513600-108521800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:108513600-108521800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:108513600-108523000	Weak transcription	Fetal Stomach	stomach
23	chr5:108513800-108521600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:108513800-108521800	Weak transcription	Fetal Lung	lung
25	chr5:108513800-108523200	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:108513800-108529600	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:108514000-108521400	Weak transcription	Adipose Nuclei	Adipose
28	chr5:108514000-108523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:108514200-108521400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:108514800-108521800	Weak transcription	Liver	Liver
31	chr5:108514800-108525400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:108515200-108527000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:108516200-108521400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:108516200-108521600	Weak transcription	HMEC	breast

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