Variant report

Variant	rs17284981
Chromosome Location	chr5:111983898-111983899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13165619	0.81[EUR][1000 genomes]
rs13354752	0.88[AFR][1000 genomes]
rs13358140	1.00[CHB][hapmap]
rs17285176	0.83[AFR][1000 genomes]
rs34514613	0.88[AFR][1000 genomes]
rs36035622	0.83[AFR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17284981	SRP19	cis	parietal	SCAN
rs17284981	REEP5	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111976800-111992800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:111979800-111985800	Weak transcription	Pancreas	Pancrea
3	chr5:111980400-111984400	Weak transcription	HSMMtube	muscle
4	chr5:111982200-111986200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:111982600-111984200	Enhancers	Fetal Muscle Leg	muscle
6	chr5:111983200-111985000	Enhancers	Fetal Intestine Large	intestine
7	chr5:111983400-111984400	Weak transcription	NHEK	skin
8	chr5:111983400-111984600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:111983600-111985400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:111983800-111986000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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