Variant report

Variant	rs7516242
Chromosome Location	chr1:57113022-57113023
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10888994	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12124565	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12124604	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12139762	0.89[EUR][1000 genomes]
rs17114158	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34294349	0.89[EUR][1000 genomes]
rs57794870	0.81[AFR][1000 genomes]
rs6679902	0.86[ASN][1000 genomes]
rs6687567	0.89[EUR][1000 genomes]
rs6687634	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6699564	0.89[EUR][1000 genomes]
rs7527842	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539169	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7545197	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9326040	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57109800-57113200	Active TSS	Right Atrium	heart
2	chr1:57109800-57114600	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr1:57110000-57113200	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:57110000-57113400	Active TSS	Right Ventricle	heart
5	chr1:57111800-57113200	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr1:57112000-57117400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:57112000-57119800	Weak transcription	HUVEC	blood vessel
8	chr1:57112200-57113600	Enhancers	Fetal Stomach	stomach
9	chr1:57112600-57113400	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:57112600-57115000	Weak transcription	Left Ventricle	heart
11	chr1:57112600-57121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:57112600-57121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:57112800-57113200	Enhancers	NHLF	lung
14	chr1:57112800-57113400	Enhancers	Hela-S3	cervix
15	chr1:57112800-57113400	Flanking Active TSS	HepG2	liver
16	chr1:57113000-57113200	Flanking Active TSS	Fetal Heart	heart
17	chr1:57113000-57122000	Weak transcription	Fetal Kidney	kidney

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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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