Variant report

Variant	rs386397
Chromosome Location	chr2:21451827-21451828
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10181679	0.91[EUR][1000 genomes]
rs312026	0.92[EUR][1000 genomes]
rs312031	0.85[EUR][1000 genomes]
rs312042	0.89[EUR][1000 genomes]
rs312043	0.91[EUR][1000 genomes]
rs312046	0.89[EUR][1000 genomes]
rs56143640	0.88[EUR][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs386397	RHOB	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21449000-21454800	Weak transcription	Spleen	Spleen
2	chr2:21450600-21452400	Enhancers	Fetal Intestine Small	intestine
3	chr2:21451000-21452200	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:21451000-21452200	Enhancers	Fetal Intestine Large	intestine
5	chr2:21451000-21452200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:21451400-21453400	Enhancers	K562	blood
7	chr2:21451600-21461800	Weak transcription	Aorta	Aorta

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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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