Variant report

Variant	rs232812
Chromosome Location	chr1:59079248-59079249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1961788	0.80[EUR][1000 genomes]
rs232773	0.90[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs232774	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs232803	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs232807	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs232810	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs232811	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs232912	0.80[EUR][1000 genomes]
rs338235	1.00[YRI][hapmap]
rs556801	1.00[YRI][hapmap]
rs613810	1.00[YRI][hapmap]
rs684219	1.00[YRI][hapmap]

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
rs232812	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	chr1:59072800-59082800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:59077800-59083200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:59078200-59083600	Weak transcription	Stomach Mucosa	stomach
5	chr1:59078400-59079800	Weak transcription	NHEK	skin
6	chr1:59078400-59083000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:59078800-59082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:59078800-59083800	Weak transcription	Aorta	Aorta
9	chr1:59079200-59082400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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