Variant report

Variant	rs74144272
Chromosome Location	chr1:221623826-221623827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11804340	1.00[AMR][1000 genomes]
rs6694543	1.00[AMR][1000 genomes]
rs74144277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74144292	1.00[AMR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221615600-221635000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:221622400-221624000	Weak transcription	Fetal Lung	lung
3	chr1:221622600-221630000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:221623000-221624200	Enhancers	NHEK	skin
5	chr1:221623200-221631000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:221623600-221624800	Weak transcription	HMEC	breast
7	chr1:221623600-221630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:221623800-221631600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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