Variant report

Variant	rs4952823
Chromosome Location	chr2:46631429-46631430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10865214	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1109286	0.81[ASN][1000 genomes]
rs11675328	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11686509	0.92[ASN][1000 genomes]
rs11686705	0.86[ASN][1000 genomes]
rs11689649	0.82[ASN][1000 genomes]
rs11689694	0.83[ASN][1000 genomes]
rs11690114	0.80[ASN][1000 genomes]
rs11691694	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11693596	0.88[ASN][1000 genomes]
rs11693754	0.92[ASN][1000 genomes]
rs12991568	0.80[EUR][1000 genomes]
rs1530622	0.91[ASN][1000 genomes]
rs35193335	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55826825	0.94[ASN][1000 genomes]
rs58481769	0.92[ASN][1000 genomes]
rs62138871	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7591548	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv34650	chr2:46605659-46818992	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2756919	chr2:46614235-46756431	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46613200-46644200	Weak transcription	Aorta	Aorta
2	chr2:46620400-46631600	Weak transcription	K562	blood
3	chr2:46629000-46636000	Weak transcription	Right Ventricle	heart
4	chr2:46630600-46638600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:46631000-46633400	Enhancers	HepG2	liver
6	chr2:46631200-46634200	Enhancers	Placenta	Placenta
7	chr2:46631200-46639600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:46631400-46635200	Weak transcription	A549	lung

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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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