Variant report

Variant	rs2919998
Chromosome Location	chr18:28776872-28776873
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1365296	0.93[EUR][1000 genomes]
rs1469300	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1469301	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1469302	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1469304	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2011596	0.93[EUR][1000 genomes]
rs2162275	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2912328	0.94[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2919999	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506895	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506896	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[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	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28771000-28789000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:28771200-28778800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:28771400-28783000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr18:28772600-28777200	Weak transcription	HMEC	breast
5	chr18:28772600-28777400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:28773000-28777000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:28773200-28777200	Weak transcription	NHEK	skin
8	chr18:28773400-28777000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr18:28773400-28777600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:28773400-28779000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:28773600-28777000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:28773600-28777800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:28773600-28778800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr18:28773600-28779400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:28775400-28777000	Weak transcription	Stomach Mucosa	stomach
16	chr18:28775800-28783000	Weak transcription	K562	blood
17	chr18:28776400-28777200	Enhancers	HepG2	liver

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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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