Variant report

Variant	rs59230822
Chromosome Location	chr5:127159522-127159523
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs59790213	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6894229	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127151000-127161200	Weak transcription	HSMM	muscle
2	chr5:127156800-127159600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:127157000-127161000	Weak transcription	NHDF-Ad	bronchial
4	chr5:127157600-127166000	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:127158000-127169800	Weak transcription	A549	lung
6	chr5:127158400-127161000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:127158600-127160600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:127158800-127159600	Enhancers	Stomach Smooth Muscle	stomach
9	chr5:127159000-127160000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:127159000-127160400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:127159000-127161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:127159200-127159800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:127159200-127159800	Enhancers	Brain Hippocampus Middle	brain
14	chr5:127159200-127160000	Enhancers	Brain Substantia Nigra	brain
15	chr5:127159200-127161200	Enhancers	Ovary	ovary
16	chr5:127159400-127159800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:127159400-127159800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr5:127159400-127160200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:127159400-127160800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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