Variant report

Variant	rs72654839
Chromosome Location	chr4:75181247-75181248
allele	A/C
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:6)

rs_ID	r²[population]
rs62312545	0.81[EUR][1000 genomes]
rs6854723	0.81[EUR][1000 genomes]
rs7676266	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7676269	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9684145	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9997322	0.81[EUR][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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75149800-75186200	Weak transcription	K562	blood
2	chr4:75175000-75186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:75175400-75185600	Weak transcription	Osteobl	bone
4	chr4:75175600-75186600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:75175600-75189000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:75176800-75186600	Weak transcription	Esophagus	oesophagus
7	chr4:75177600-75185800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:75177600-75186200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:75178000-75182600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:75178000-75183800	Strong transcription	HMEC	breast
11	chr4:75178200-75182200	Strong transcription	NHEK	skin
12	chr4:75178200-75183600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:75179600-75182600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:75180000-75181600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:75180000-75182600	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:75180800-75184600	Weak transcription	Hela-S3	cervix
17	chr4:75181000-75181400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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

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