Variant report

Variant	rs4799562
Chromosome Location	chr18:28637015-28637016
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12456806	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12458126	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1586958	0.84[ASN][1000 genomes]
rs1586959	0.84[ASN][1000 genomes]
rs1586960	0.84[ASN][1000 genomes]
rs1586961	0.84[ASN][1000 genomes]
rs17726372	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1816635	0.84[ASN][1000 genomes]
rs28414229	0.88[ASN][1000 genomes]
rs28657717	0.84[ASN][1000 genomes]
rs28688431	0.83[ASN][1000 genomes]
rs41465650	0.84[ASN][1000 genomes]
rs7235088	0.89[ASN][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	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526587	chr18:28629839-28639548	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv2244	chr18:28635554-28666380	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr18:28631200-28640400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:28634400-28641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:28635800-28637200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr18:28635800-28637800	Enhancers	NHEK	skin
5	chr18:28636000-28637400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:28636200-28637200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr18:28636200-28637400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr18:28636400-28645000	Weak transcription	Fetal Intestine Large	intestine
9	chr18:28636600-28640600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:28636600-28644800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:28636600-28645200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:28636800-28637200	Weak transcription	Fetal Lung	lung
13	chr18:28636800-28641800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:28637000-28637800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr18:28637000-28643800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:28637000-28645000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:28637000-28647400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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