Variant report

Variant	rs4287304
Chromosome Location	chr11:16559630-16559631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10766330	0.92[AFR][1000 genomes]
rs4369362	0.92[AFR][1000 genomes]
rs4411253	0.91[AFR][1000 genomes]
rs4547057	0.92[AFR][1000 genomes]
rs4756854	0.91[AFR][1000 genomes]
rs4757406	0.87[AFR][1000 genomes]
rs61883865	0.91[AFR][1000 genomes]
rs6486291	0.81[AFR][1000 genomes]
rs7108946	0.88[AFR][1000 genomes]
rs7937573	0.88[AFR][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	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897016	chr11:16455794-16691743	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1035768	chr11:16530440-16578566	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cotinine glucuronidation	25293881	GWAS catalog

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16558400-16560200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:16558800-16564000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:16558800-16565800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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