Variant report

Variant	rs60255894
Chromosome Location	chr14:63720616-63720617
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57731321	0.85[AMR][1000 genomes]
rs59900548	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60068448	1.00[ASN][1000 genomes]
rs60075488	0.85[AMR][1000 genomes];0.86[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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63700600-63732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:63708000-63733600	Weak transcription	Left Ventricle	heart
4	chr14:63716000-63723400	Strong transcription	HUVEC	blood vessel
5	chr14:63716000-63729000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
7	chr14:63716200-63722600	Weak transcription	Right Atrium	heart
8	chr14:63716800-63731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:63717400-63721200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:63717400-63730200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:63717400-63734200	Weak transcription	Fetal Lung	lung
12	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:63717800-63733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:63718400-63720800	Weak transcription	Fetal Muscle Leg	muscle
15	chr14:63718800-63728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:63719200-63720800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:63720400-63720800	Strong transcription	NH-A	brain
18	chr14:63720400-63721800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
19	chr14:63720600-63720800	Enhancers	Psoas Muscle	Psoas
20	chr14:63720600-63720800	Enhancers	Right Ventricle	heart
21	chr14:63720600-63720800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr14:63720600-63725800	Strong transcription	Fetal Stomach	stomach

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