Variant report

Variant	rs56066127
Chromosome Location	chr1:224749722-224749723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16849590	0.86[EUR][1000 genomes]
rs17512318	0.86[EUR][1000 genomes]
rs55771124	0.86[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv873224	chr1:224746577-224794913	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224740000-224762200	Weak transcription	Ovary	ovary
2	chr1:224741400-224751400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:224742000-224753000	Weak transcription	Pancreas	Pancrea
4	chr1:224747000-224751000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:224747200-224751400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224747200-224751600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:224747800-224750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:224748000-224749800	ZNF genes & repeats	HMEC	breast
9	chr1:224748200-224750200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:224748200-224750400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:224748200-224752200	Weak transcription	Osteobl	bone
12	chr1:224748600-224749800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:224748800-224750000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:224749000-224753200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:224749200-224752400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:224749400-224753200	Enhancers	NHDF-Ad	bronchial

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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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