Variant report

Variant	rs2912320
Chromosome Location	chr18:28833528-28833529
allele	C/G
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:9)

rs_ID	r²[population]
rs11081687	0.80[CEU][hapmap]
rs2217075	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2912316	0.84[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2912318	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2912322	0.92[EUR][1000 genomes]
rs2912323	0.95[EUR][1000 genomes]
rs2919981	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2919982	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60538176	0.90[AMR][1000 genomes];0.82[EUR][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	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28825200-28835400	Weak transcription	Right Atrium	heart
2	chr18:28827000-28841400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:28827800-28835400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:28828000-28835600	Weak transcription	GM12878-XiMat	blood
5	chr18:28828000-28841400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:28830000-28835200	Weak transcription	HMEC	breast
7	chr18:28830400-28835200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:28831600-28835200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:28831600-28835200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:28831600-28835200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:28831600-28835200	Weak transcription	NHEK	skin
12	chr18:28833000-28834400	Weak transcription	Liver	Liver
13	chr18:28833000-28840200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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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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