Variant report

Variant	rs6813048
Chromosome Location	chr4:55839597-55839598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10021281	0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418957	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28460101	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28690930	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28820633	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592141	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6811792	1.00[AMR][1000 genomes]
rs73816902	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9994473	0.83[AMR][1000 genomes]
rs9999041	0.91[AFR][1000 genomes];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	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv948758	chr4:55748430-55887962	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv829938	chr4:55836964-55857893	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55838400-55842800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:55838400-55842800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:55838400-55843000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:55838400-55843200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:55839400-55839600	Enhancers	Esophagus	oesophagus
6	chr4:55839400-55840000	Enhancers	Fetal Brain Male	brain

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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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