Variant report

Variant	rs510440
Chromosome Location	chr15:58630722-58630723
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2566091	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs261312	0.90[AMR][1000 genomes]
rs261319	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs261321	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs261323	0.85[AMR][1000 genomes]
rs261325	0.80[AMR][1000 genomes]
rs394492	0.83[AMR][1000 genomes]
rs402345	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs403821	0.83[AMR][1000 genomes]
rs424219	0.90[AMR][1000 genomes]
rs444258	0.83[AMR][1000 genomes]
rs566160	0.83[AMR][1000 genomes]
rs8024099	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58625000-58643200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:58626000-58634800	Weak transcription	NHLF	lung
3	chr15:58626000-58638200	Weak transcription	HSMMtube	muscle
4	chr15:58626200-58638400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr15:58627200-58634200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:58627200-58638200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:58628600-58634000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:58629000-58631800	Weak transcription	K562	blood
9	chr15:58629800-58638400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:58630000-58631800	Weak transcription	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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