Variant report

Variant	rs72919108
Chromosome Location	chr4:125121844-125121845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12374314	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13118331	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13145342	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17007837	0.82[EUR][1000 genomes]
rs17007854	0.82[EUR][1000 genomes]
rs34019413	0.82[EUR][1000 genomes]
rs34184011	0.82[EUR][1000 genomes]
rs35036851	1.00[EUR][1000 genomes]
rs67117882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67696371	0.82[EUR][1000 genomes]
rs6820073	0.82[EUR][1000 genomes]
rs71608174	0.82[EUR][1000 genomes]
rs72919110	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv432624	chr4:125013395-125367740	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998024	chr4:125019384-125380876	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537241	chr4:125019384-125380876	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1015049	chr4:125037090-125393067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125115400-125124800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:125120200-125122200	Enhancers	Hela-S3	cervix
3	chr4:125121000-125122600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:125121000-125123600	Weak transcription	NHLF	lung
5	chr4:125121200-125126200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:125121400-125122600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:125121400-125123000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:125121400-125123000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:125121600-125122800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:125121600-125122800	Weak transcription	NHEK	skin
11	chr4:125121600-125123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:125121600-125123000	Weak transcription	Osteobl	bone
13	chr4:125121600-125128200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:125121800-125122200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:125121800-125122800	Weak transcription	Adipose Nuclei	Adipose
16	chr4:125121800-125124400	Weak transcription	HUVEC	blood vessel

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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