Variant report

Variant	rs3783547
Chromosome Location	chr2:113533339-113533340
allele	C/T
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]
rs10169524	0.98[ASN][1000 genomes]
rs17042407	0.81[ASN][1000 genomes]
rs2071374	0.99[ASN][1000 genomes]
rs2856838	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783515	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783516	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157427	0.81[ASN][1000 genomes]
rs62157428	0.81[ASN][1000 genomes]
rs62157429	0.81[ASN][1000 genomes]
rs62157430	0.81[ASN][1000 genomes]
rs62157431	0.81[ASN][1000 genomes]
rs6746923	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594852	0.81[AMR][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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv3436785	chr2:113533106-113535654	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3390387	chr2:113533281-113535579	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113522800-113541600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113523400-113539200	Weak transcription	Hela-S3	cervix
3	chr2:113523800-113534600	Weak transcription	HMEC	breast
4	chr2:113526800-113537800	Weak transcription	NHDF-Ad	bronchial
5	chr2:113528400-113533800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:113530200-113534600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:113530200-113541200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:113530400-113533600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:113530400-113538600	Weak transcription	K562	blood
10	chr2:113531000-113533600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:113531600-113534800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:113532200-113534400	Strong transcription	NHEK	skin
13	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:113532200-113535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:113533000-113534000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:113533200-113533400	Flanking Active TSS	Fetal Heart	heart

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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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