Variant report

Variant	rs4865535
Chromosome Location	chr5:51990269-51990270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11957366	0.81[ASN][1000 genomes]
rs1645392	0.80[ASN][1000 genomes]
rs164650	0.80[ASN][1000 genomes]
rs164652	0.81[ASN][1000 genomes]
rs164655	0.81[ASN][1000 genomes]
rs350444	0.90[ASN][1000 genomes]
rs351900	0.80[ASN][1000 genomes]
rs351903	0.80[ASN][1000 genomes]
rs351922	0.81[ASN][1000 genomes]
rs351924	0.81[ASN][1000 genomes]
rs351925	0.81[ASN][1000 genomes]
rs352363	0.81[ASN][1000 genomes]
rs352364	0.81[ASN][1000 genomes]
rs352365	0.81[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	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 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	chr5:51985600-51990600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:51985600-51993000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:51988800-51990400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:51988800-51991600	Weak transcription	Fetal Kidney	kidney
5	chr5:51989200-51990400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:51989200-51990400	Weak transcription	NHLF	lung
7	chr5:51989400-51990600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:51989600-51990400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:51990000-51990400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:51990000-51990600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:51990000-51990600	Enhancers	Adipose Nuclei	Adipose
12	chr5:51990000-51990600	Enhancers	Fetal Muscle Leg	muscle
13	chr5:51990000-51990800	Enhancers	Fetal Lung	lung
14	chr5:51990000-51998200	Weak transcription	Small Intestine	intestine
15	chr5:51990200-51990600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:51990200-51990800	Enhancers	HUES48 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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