Variant report

Variant	rs55686118
Chromosome Location	chr2:172129329-172129330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10203533	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10211242	0.93[AMR][1000 genomes]
rs13382769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13396177	0.82[AMR][1000 genomes]
rs13401549	0.95[AMR][1000 genomes]
rs4668378	0.86[AMR][1000 genomes]
rs4668381	0.86[EUR][1000 genomes]
rs55794741	0.93[AMR][1000 genomes]
rs6710133	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs72874622	0.85[EUR][1000 genomes]
rs9287943	0.93[AMR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55686118	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172127400-172129800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172127600-172130000	Enhancers	HMEC	breast
3	chr2:172127600-172130400	Enhancers	Colon Smooth Muscle	Colon
4	chr2:172127800-172129800	Enhancers	Hela-S3	cervix
5	chr2:172127800-172134000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:172128000-172130000	Enhancers	Stomach Smooth Muscle	stomach
7	chr2:172128600-172129400	Enhancers	Pancreas	Pancrea
8	chr2:172128600-172134200	Weak transcription	HSMMtube	muscle
9	chr2:172128800-172129800	Weak transcription	Fetal Brain Female	brain
10	chr2:172129000-172138800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:172129200-172129800	Enhancers	NHEK	skin
12	chr2:172129200-172136000	Weak transcription	HUES48 Cell Line	embryonic stem cell

Quick Search:

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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