Variant report

Variant	rs6747959
Chromosome Location	chr2:172130053-172130054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17218110	0.85[AMR][1000 genomes]
rs1861769	0.87[AMR][1000 genomes]
rs1861770	0.84[AMR][1000 genomes]
rs4667682	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62169054	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6433287	0.97[ASN][1000 genomes]
rs72625231	0.85[AMR][1000 genomes]
rs72625232	0.94[ASN][1000 genomes]
rs9653290	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172127600-172130400	Enhancers	Colon Smooth Muscle	Colon
2	chr2:172127800-172134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:172128600-172134200	Weak transcription	HSMMtube	muscle
4	chr2:172129000-172138800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:172129200-172136000	Weak transcription	HUES48 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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