Variant report

Variant	rs1249923
Chromosome Location	chr3:112412233-112412234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1094047	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1249921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1249924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1249926	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1249927	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1615696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2633554	1.00[EUR][1000 genomes]
rs2688604	1.00[AMR][1000 genomes]
rs2931809	0.92[AFR][1000 genomes]
rs2971202	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4082839	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72940095	1.00[EUR][1000 genomes]
rs820540	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs820574	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs820575	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs820576	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs820577	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs864239	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv979866	chr3:112409140-112416297	Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112401200-112413800	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:112407400-112415000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:112407800-112413800	Weak transcription	NHDF-Ad	bronchial
4	chr3:112408800-112412400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:112408800-112413800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:112409200-112412400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:112409200-112414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:112409400-112413800	Weak transcription	Osteobl	bone
9	chr3:112409400-112414400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:112409400-112414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:112409400-112418200	Weak transcription	A549	lung
12	chr3:112409400-112418400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:112411600-112412800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:112411800-112412400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:112412000-112412400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:112412000-112412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:112412000-112412600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:112412200-112416200	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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