Variant report

Variant	rs57654778
Chromosome Location	chr15:75480347-75480348
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28362067	1.00[AMR][1000 genomes]
rs57509570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58397909	1.00[AMR][1000 genomes]
rs59078717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73437018	1.00[AMR][1000 genomes]
rs73437030	1.00[AMR][1000 genomes]
rs73437031	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73437042	1.00[AMR][1000 genomes]
rs73437054	1.00[AMR][1000 genomes]
rs73437055	1.00[AMR][1000 genomes]
rs73437074	1.00[AMR][1000 genomes]
rs73438811	1.00[AMR][1000 genomes]
rs8023648	1.00[AMR][1000 genomes]
rs8039385	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv976951	chr15:75478775-75481114	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75473000-75487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:75473200-75483200	Weak transcription	Aorta	Aorta
3	chr15:75473200-75483400	Weak transcription	Left Ventricle	heart
4	chr15:75475400-75487800	Weak transcription	Right Atrium	heart
5	chr15:75475600-75480600	Weak transcription	HepG2	liver
6	chr15:75475600-75481600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:75475600-75487600	Weak transcription	Pancreas	Pancrea
8	chr15:75477200-75492600	Weak transcription	Spleen	Spleen
9	chr15:75478600-75486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:75478800-75480800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:75478800-75483400	Weak transcription	Fetal Heart	heart
12	chr15:75479800-75482600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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

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