Variant report

Variant	rs17443345
Chromosome Location	chr12:40609885-40609886
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10506145	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11564137	0.83[ASN][1000 genomes]
rs1491926	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17442805	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17443112	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17461492	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17465400	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17465519	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17465540	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2404574	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2708404	0.83[ASN][1000 genomes]
rs55993200	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7974522	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40604200-40611000	Weak transcription	Fetal Kidney	kidney
2	chr12:40605200-40610400	Weak transcription	A549	lung
3	chr12:40608800-40611400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:40609200-40610000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:40609200-40611200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:40609400-40610000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:40609400-40610800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:40609400-40611000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:40609400-40611000	Enhancers	Hela-S3	cervix
10	chr12:40609400-40611000	Enhancers	HMEC	breast
11	chr12:40609600-40610000	Enhancers	Primary B cells from cord blood	blood
12	chr12:40609600-40610000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:40609600-40610400	Enhancers	NHEK	skin
14	chr12:40609600-40610600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:40609600-40611000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:40609800-40610200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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