Variant report

Variant	rs2249885
Chromosome Location	chr17:19481664-19481665
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10735	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2120272	0.82[EUR][1000 genomes]
rs2440167	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2453594	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2453595	0.95[EUR][1000 genomes]
rs2453596	0.91[EUR][1000 genomes]
rs7212622	0.86[AMR][1000 genomes];0.96[EUR][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	nsv428337	chr17:19340045-19585774	Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1061408	chr17:19458185-19613357	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2249885	ALDH3A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19457000-19483000	Weak transcription	Psoas Muscle	Psoas
2	chr17:19459200-19482000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:19464000-19483800	Weak transcription	A549	lung
4	chr17:19471200-19482400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:19471200-19482800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr17:19476600-19482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:19477200-19482000	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:19479400-19482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr17:19481000-19481800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:19481000-19482600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr17:19481000-19483400	Enhancers	Liver	Liver
12	chr17:19481200-19485600	Weak transcription	HepG2	liver
13	chr17:19481600-19481800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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