Variant report

Variant	rs72994217
Chromosome Location	chr3:146271235-146271236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs56691733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58725636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60140018	0.94[AFR][1000 genomes]
rs72994205	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs72994222	1.00[AFR][1000 genomes]
rs72994229	0.91[AFR][1000 genomes]
rs73865798	0.89[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014493	chr3:146255594-146288414	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146263800-146271800	Weak transcription	K562	blood
2	chr3:146267200-146271600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr3:146267800-146272000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:146268200-146272200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:146268600-146271600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:146268800-146272400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:146269000-146272000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:146269200-146271400	Weak transcription	Dnd41	blood
9	chr3:146269200-146271800	Weak transcription	A549	lung
10	chr3:146269200-146273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:146269400-146272000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:146269600-146271600	Weak transcription	GM12878-XiMat	blood
13	chr3:146270000-146284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:146270200-146274200	Weak transcription	HMEC	breast
15	chr3:146271000-146271400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:146271000-146271800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr3:146271200-146271600	Enhancers	Primary B cells from cord blood	blood
18	chr3:146271200-146272600	Enhancers	Primary monocytes fromperipheralblood	blood

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links