Variant report

Variant	rs509684
Chromosome Location	chr6:4678592-4678593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1543360	1.00[AMR][1000 genomes]
rs1737852	1.00[AMR][1000 genomes]
rs1737854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs370934	1.00[AMR][1000 genomes]
rs378634	1.00[AMR][1000 genomes]
rs385252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs386479	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs391047	1.00[AMR][1000 genomes]
rs392380	1.00[AMR][1000 genomes]
rs395932	1.00[AMR][1000 genomes]
rs403099	1.00[AMR][1000 genomes]
rs408274	1.00[AMR][1000 genomes]
rs427408	1.00[AMR][1000 genomes]
rs448599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs449197	1.00[AMR][1000 genomes]
rs509803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs688600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6907680	1.00[AMR][1000 genomes]
rs6924001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6926690	1.00[AMR][1000 genomes]
rs742571	1.00[AMR][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	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv528627	chr6:4614058-4731340	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv883416	chr6:4666878-4690760	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4665000-4680400	Weak transcription	Right Atrium	heart
2	chr6:4669000-4695600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:4675600-4684000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:4676200-4678800	Weak transcription	K562	blood
5	chr6:4677600-4678600	Enhancers	Placenta	Placenta
6	chr6:4678200-4679200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:4678200-4679200	Weak transcription	Esophagus	oesophagus
8	chr6:4678200-4684000	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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