Variant report

Variant	rs232810
Chromosome Location	chr1:59075866-59075867
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12723341	0.81[CHB][hapmap]
rs151311	0.83[AFR][1000 genomes]
rs232773	0.90[CEU][hapmap];0.80[JPT][hapmap];0.95[EUR][1000 genomes]
rs232774	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs232803	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs232807	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs232811	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs232812	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs232810	MYSM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59060600-59082200	Weak transcription	HUVEC	blood vessel
2	chr1:59071400-59077400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:59072800-59082800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:59073400-59077800	Weak transcription	Aorta	Aorta
5	chr1:59074800-59077000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:59074800-59078800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:59075000-59077600	Weak transcription	NHEK	skin
8	chr1:59075200-59078000	Weak transcription	Stomach Mucosa	stomach
9	chr1:59075200-59078400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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

what's new

Quick links