Variant report

Variant	rs72943768
Chromosome Location	chr4:148502281-148502282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10305928	1.00[AMR][1000 genomes]
rs56742716	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60883134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72943792	0.93[AFR][1000 genomes]
rs72945825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148499400-148507400	Weak transcription	NHDF-Ad	bronchial
2	chr4:148499600-148502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:148499600-148502600	Weak transcription	NHLF	lung
4	chr4:148499600-148504400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:148499800-148503400	Weak transcription	A549	lung
6	chr4:148499800-148503400	Weak transcription	HSMM	muscle
7	chr4:148499800-148503400	Weak transcription	HSMMtube	muscle
8	chr4:148500000-148510800	Weak transcription	Ovary	ovary
9	chr4:148500200-148505000	Weak transcription	HUVEC	blood vessel
10	chr4:148501600-148505200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:148501600-148505400	Enhancers	HMEC	breast
12	chr4:148501800-148503000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:148501800-148503600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:148501800-148503600	Enhancers	Osteobl	bone
15	chr4:148501800-148504000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:148501800-148504000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:148501800-148505400	Enhancers	Hela-S3	cervix
18	chr4:148502000-148502800	Weak transcription	NHEK	skin
19	chr4:148502200-148505400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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