Variant report

Variant	rs232912
Chromosome Location	chr1:59101366-59101367
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:59085711..59087328-chr1:59101267..59102915,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12139211	0.82[ASN][1000 genomes]
rs12732648	0.81[ASN][1000 genomes]
rs1492718	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1565662	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17117956	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1961788	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs232773	0.83[EUR][1000 genomes]
rs232774	0.83[EUR][1000 genomes]
rs232777	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232780	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232782	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232785	0.81[ASN][1000 genomes]
rs232786	0.81[ASN][1000 genomes]
rs232787	0.81[ASN][1000 genomes]
rs232789	0.81[ASN][1000 genomes]
rs232792	0.81[ASN][1000 genomes]
rs232793	0.81[ASN][1000 genomes]
rs232794	0.81[ASN][1000 genomes]
rs232795	0.81[ASN][1000 genomes]
rs232811	0.80[EUR][1000 genomes]
rs232812	0.80[EUR][1000 genomes]
rs232852	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232853	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232854	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232855	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232856	0.81[ASN][1000 genomes]
rs232858	0.81[ASN][1000 genomes]
rs232860	0.81[ASN][1000 genomes]
rs232864	0.81[ASN][1000 genomes]
rs232865	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232866	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232870	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232871	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232874	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232876	0.81[EUR][1000 genomes]
rs232881	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232882	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232884	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232885	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232887	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232888	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232889	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232890	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232891	0.82[EUR][1000 genomes]
rs232892	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232894	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232895	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232896	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232897	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs232898	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs232899	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs232900	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs232903	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs23588	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34941709	0.81[ASN][1000 genomes]
rs4912362	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6587835	0.81[EUR][1000 genomes];0.81[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
rs232912	MYSM1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59086400-59104000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:59087200-59101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:59093200-59115400	Weak transcription	NHEK	skin
4	chr1:59096000-59121600	Weak transcription	HUVEC	blood vessel
5	chr1:59096600-59121600	Weak transcription	Gastric	stomach
6	chr1:59099000-59101600	Weak transcription	Aorta	Aorta
7	chr1:59100400-59101600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:59100600-59101600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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