Variant report

Variant	rs245164
Chromosome Location	chr5:127232691-127232692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs151848	0.96[EUR][1000 genomes]
rs151850	0.96[EUR][1000 genomes]
rs151851	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs151852	0.96[EUR][1000 genomes]
rs245161	0.96[EUR][1000 genomes]
rs245162	0.96[EUR][1000 genomes]
rs245166	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs245168	0.96[EUR][1000 genomes]
rs245169	0.96[EUR][1000 genomes]
rs245170	0.96[EUR][1000 genomes]
rs62375865	0.96[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	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127228800-127234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:127229000-127234200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:127229000-127234200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:127229000-127234200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:127229000-127234400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:127229200-127233800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:127229200-127234000	Weak transcription	Brain Hippocampus Middle	brain
8	chr5:127229200-127234200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:127229200-127234200	Weak transcription	Brain Anterior Caudate	brain
10	chr5:127229200-127234200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr5:127229400-127233600	Weak transcription	Brain Angular Gyrus	brain
12	chr5:127229400-127234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:127229400-127234200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:127229400-127234200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:127229400-127234200	Weak transcription	Brain Substantia Nigra	brain
16	chr5:127229400-127234200	Weak transcription	HMEC	breast
17	chr5:127229800-127234400	Weak transcription	NHEK	skin
18	chr5:127231200-127234400	Weak transcription	A549	lung

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Input of quick search could be:

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

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