Variant report

Variant	rs72678577
Chromosome Location	chr4:120583670-120583671
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11098544	1.00[AFR][1000 genomes]
rs2304801	1.00[AFR][1000 genomes]
rs56038013	1.00[AFR][1000 genomes]
rs72682827	1.00[AFR][1000 genomes]
rs72682828	1.00[AFR][1000 genomes]
rs72682832	1.00[AFR][1000 genomes]
rs72682843	1.00[AFR][1000 genomes]
rs72682844	1.00[AFR][1000 genomes]
rs72682845	1.00[AFR][1000 genomes]
rs72682877	1.00[AFR][1000 genomes]
rs72682884	1.00[AFR][1000 genomes]
rs72682885	1.00[AFR][1000 genomes]
rs72682891	1.00[AFR][1000 genomes]
rs72682897	1.00[AFR][1000 genomes]
rs72682898	1.00[AFR][1000 genomes]
rs72682901	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010753	chr4:120429028-120684310	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv537233	chr4:120429028-120684310	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1006572	chr4:120432494-120694243	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1802546	chr4:120558608-120675026	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 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	chr4:120577600-120605000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:120577800-120583800	Weak transcription	Fetal Stomach	stomach
3	chr4:120578400-120584000	Weak transcription	Aorta	Aorta
4	chr4:120578800-120584600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:120578800-120588000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:120578800-120592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:120581000-120583800	Weak transcription	Small Intestine	intestine
8	chr4:120581400-120584000	Weak transcription	NHLF	lung
9	chr4:120581400-120584200	Weak transcription	Osteobl	bone
10	chr4:120581400-120584400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:120581400-120584600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:120581400-120584600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr4:120582600-120584600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:120582800-120584000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr4:120583400-120584600	Enhancers	Fetal Lung	lung
16	chr4:120583600-120584000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:120583600-120584400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:120583600-120584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:120583600-120587800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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