Variant report

Variant	rs56272400
Chromosome Location	chr6:54847282-54847283
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55801328	1.00[AMR][1000 genomes]
rs55954156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57287621	1.00[AMR][1000 genomes]
rs60013096	1.00[AMR][1000 genomes]
rs60517516	1.00[AMR][1000 genomes]
rs61632434	0.83[AFR][1000 genomes]
rs73431481	1.00[AMR][1000 genomes]
rs73432338	1.00[AMR][1000 genomes]
rs73434410	1.00[AMR][1000 genomes]
rs73742869	1.00[AMR][1000 genomes]
rs73742883	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv5309	chr6:54834971-54855729	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
3	nsv603134	chr6:54841672-54851340	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv20291	chr6:54846098-54851665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv3474002	chr6:54846245-54851547	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	esv3474003	chr6:54846291-54851530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3474001	chr6:54846368-54851443	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	nsv514361	chr6:54846369-54848773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv499725	chr6:54846381-54851446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
10	esv3474004	chr6:54846382-54851446	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54847000-54847400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:54847000-54854800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:54847000-54856800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:54847200-54847600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:54847200-54847600	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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