Variant report

Variant	rs28365192
Chromosome Location	chr12:40547026-40547027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12307750	0.87[ASN][1000 genomes]
rs12308185	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12309175	0.84[ASN][1000 genomes]
rs1388592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1491943	1.00[JPT][hapmap]
rs17442511	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17519419	0.81[ASN][1000 genomes]
rs28365207	0.86[JPT][hapmap]
rs3763985	0.98[ASN][1000 genomes]
rs4291738	1.00[JPT][hapmap]
rs931207	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9652020	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40543800-40547200	Weak transcription	HMEC	breast
2	chr12:40544000-40547400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:40544200-40547200	Weak transcription	NHEK	skin
4	chr12:40546200-40547400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:40546600-40547200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr12:40546600-40547800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:40546600-40547800	Enhancers	A549	lung
8	chr12:40546600-40548400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:40546800-40547200	Enhancers	Liver	Liver
10	chr12:40546800-40548400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:40547000-40547200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:40547000-40547800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:40547000-40547800	Enhancers	Primary B cells from peripheral blood	blood
14	chr12:40547000-40548000	Enhancers	Primary B cells from cord blood	blood

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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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