Variant report

Variant	rs61622947
Chromosome Location	chr2:37554461-37554462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12621268	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55912911	0.90[EUR][1000 genomes]
rs57400672	0.90[EUR][1000 genomes]
rs58186361	0.90[EUR][1000 genomes]
rs58283784	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59635910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60172229	0.90[EUR][1000 genomes]
rs61519361	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72863151	0.90[EUR][1000 genomes]
rs72863156	0.90[EUR][1000 genomes]
rs72863167	0.90[EUR][1000 genomes]
rs72863171	0.90[EUR][1000 genomes]
rs72863172	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72863186	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72863188	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72863189	0.90[EUR][1000 genomes]
rs72864813	1.00[EUR][1000 genomes]
rs7592627	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61622947	RCL1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37553000-37555200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:37553200-37555000	Weak transcription	Small Intestine	intestine
3	chr2:37553400-37554600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:37553600-37554600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:37553800-37554600	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr2:37553800-37562200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:37554000-37554600	Enhancers	Colon Smooth Muscle	Colon
8	chr2:37554000-37557800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:37554200-37554800	Enhancers	Hela-S3	cervix
10	chr2:37554400-37554800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:37554400-37554800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:37554400-37554800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:37554400-37554800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:37554400-37555000	Enhancers	NHDF-Ad	bronchial

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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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