Variant report

Variant	rs72924312
Chromosome Location	chr4:120584019-120584020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120583446..120585876-chr4:120986631..120988328,2	K562	blood:

Variant related genes	Relation type
ENSG00000164109	Chromatin interaction
ENSG00000250938	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10434032	0.86[ASN][1000 genomes]
rs10434033	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359764	0.82[ASN][1000 genomes]
rs17359910	0.86[ASN][1000 genomes]
rs1962195	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389872	0.82[ASN][1000 genomes]
rs2389876	0.82[ASN][1000 genomes]
rs2389877	0.82[ASN][1000 genomes]
rs2389878	0.82[ASN][1000 genomes]
rs2389881	0.91[ASN][1000 genomes]
rs2389883	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389891	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389892	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2953290	0.82[ASN][1000 genomes]
rs58613543	0.86[ASN][1000 genomes]
rs59225699	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72922580	0.86[ASN][1000 genomes]
rs72922588	0.86[ASN][1000 genomes]
rs72922598	0.86[ASN][1000 genomes]
rs72924305	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73842685	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7670803	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7671191	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684853	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9991735	0.96[EUR][1000 genomes];1.00[ASN][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:20 , 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	chr4:120578800-120584600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:120578800-120588000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:120578800-120592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:120581400-120584200	Weak transcription	Osteobl	bone
6	chr4:120581400-120584400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:120581400-120584600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:120581400-120584600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:120582600-120584600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:120583400-120584600	Enhancers	Fetal Lung	lung
11	chr4:120583600-120584400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:120583600-120584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:120583600-120587800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:120583800-120585200	Enhancers	Fetal Stomach	stomach
15	chr4:120584000-120584400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:120584000-120584400	Enhancers	Aorta	Aorta
17	chr4:120584000-120584400	Enhancers	Stomach Smooth Muscle	stomach
18	chr4:120584000-120584400	Enhancers	NHLF	lung
19	chr4:120584000-120584600	Enhancers	Rectal Smooth Muscle	rectum
20	chr4:120584000-120584600	Weak transcription	Small Intestine	intestine

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