Variant report

Variant	rs2239692
Chromosome Location	chr3:46488854-46488855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17078863	0.80[AFR][1000 genomes]
rs2230894	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2230895	0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2239693	0.91[AFR][1000 genomes]
rs2269436	0.83[AFR][1000 genomes]
rs2269444	0.87[AFR][1000 genomes]
rs3796377	0.88[AFR][1000 genomes]
rs4683227	0.88[AFR][1000 genomes]
rs6766188	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6774882	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6776245	0.91[AFR][1000 genomes]
rs6776379	0.83[AFR][1000 genomes]
rs6776621	0.85[AFR][1000 genomes]
rs6781377	0.88[AFR][1000 genomes]
rs743658	0.83[AFR][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	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:46480200-46504000	Weak transcription	Lung	lung
4	chr3:46484800-46495000	Weak transcription	Fetal Intestine Small	intestine
5	chr3:46486400-46490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:46486800-46490200	Weak transcription	Gastric	stomach
7	chr3:46486800-46490600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr3:46488400-46489400	Enhancers	NHEK	skin
9	chr3:46488600-46489200	Genic enhancers	Adipose Nuclei	Adipose
10	chr3:46488600-46489400	Strong transcription	Pancreas	Pancrea
11	chr3:46488600-46489800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr3:46488800-46489000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:46488800-46489200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:46488800-46489200	Genic enhancers	Spleen	Spleen
15	chr3:46488800-46489400	Enhancers	Left Ventricle	heart
16	chr3:46488800-46489400	Enhancers	Right Ventricle	heart
17	chr3:46488800-46489400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr3:46488800-46489600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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