Variant report

Variant	rs4514641
Chromosome Location	chr15:78268458-78268459
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11072704	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072715	0.86[ASN][1000 genomes]
rs11631951	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852862	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12438168	0.80[AMR][1000 genomes]
rs28625379	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4243072	0.93[AMR][1000 genomes]
rs4371120	0.93[ASN][1000 genomes]
rs4509985	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4886551	0.90[AMR][1000 genomes];0.84[EUR][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	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78258800-78275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:78264000-78269200	Enhancers	Fetal Muscle Leg	muscle
3	chr15:78266000-78268800	Enhancers	Fetal Heart	heart
4	chr15:78266200-78268600	Enhancers	Fetal Lung	lung
5	chr15:78266200-78268600	Enhancers	Left Ventricle	heart
6	chr15:78266200-78268600	Enhancers	Right Ventricle	heart
7	chr15:78266200-78268800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:78266200-78272400	Enhancers	Placenta	Placenta
9	chr15:78266400-78271800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:78266600-78268800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:78266800-78268600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr15:78267200-78269400	Weak transcription	NHDF-Ad	bronchial
13	chr15:78267200-78270000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr15:78267400-78268600	Bivalent Enhancer	Fetal Stomach	stomach
15	chr15:78267800-78269200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:78268000-78269200	Weak transcription	Adipose Nuclei	Adipose
17	chr15:78268000-78276000	Weak transcription	HSMMtube	muscle
18	chr15:78268000-78276200	Weak transcription	HSMM	muscle
19	chr15:78268200-78270400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr15:78268200-78270600	Weak transcription	Hela-S3	cervix
21	chr15:78268200-78271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:78268200-78271400	Weak transcription	Spleen	Spleen
23	chr15:78268400-78276000	Weak transcription	Ovary	ovary
24	chr15:78268400-78276000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:78268400-78281800	Weak transcription	Right Atrium	heart

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