Variant report

Variant	rs6451597
Chromosome Location	chr5:42226069-42226070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10059251	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10059910	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10434602	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1393016	0.84[EUR][1000 genomes]
rs1393019	0.88[EUR][1000 genomes]
rs1501512	0.81[EUR][1000 genomes]
rs4077983	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4242100	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4242101	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4866735	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4866836	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs632189	0.84[EUR][1000 genomes]
rs6451598	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6451599	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6451606	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9292851	0.87[AMR][1000 genomes];0.82[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1034208	chr5:42119128-42290759	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42219400-42228600	Weak transcription	Adipose Nuclei	Adipose
2	chr5:42223200-42228400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:42224400-42226600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr5:42224800-42227200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:42225200-42227400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:42225400-42226400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:42225400-42228600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:42225600-42226800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:42225600-42228600	Weak transcription	H1 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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