Variant report

Variant	rs11684294
Chromosome Location	chr2:172138272-172138273
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:8)

rs_ID	r²[population]
rs10754977	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10803858	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10803859	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10930464	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11903215	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6727785	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6743965	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7349362	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3363565	chr2:172137862-172138342	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172129000-172138800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:172137000-172139000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:172137200-172140200	Weak transcription	HepG2	liver
4	chr2:172137800-172138400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:172138200-172143600	Weak transcription	iPS-20b 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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