Variant report

Variant	rs1917352
Chromosome Location	chr7:124206491-124206492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10243704	0.89[EUR][1000 genomes]
rs1073554	0.90[EUR][1000 genomes]
rs10954040	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1181796	0.91[EUR][1000 genomes]
rs12668485	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13239002	0.82[EUR][1000 genomes]
rs13239082	0.82[EUR][1000 genomes]
rs1568813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147231	0.94[EUR][1000 genomes]
rs17147238	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1949834	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35936075	0.81[ASN][1000 genomes]
rs73219091	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791861	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv831118	chr7:124172267-124347527	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1917352	TSPAN12	cis	parietal	SCAN
rs1917352	LMOD2	cis	cerebellum	SCAN
rs1917352	LOC154872	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124205000-124207200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr7:124205800-124207000	Enhancers	A549	lung
3	chr7:124206200-124207000	Enhancers	HMEC	breast
4	chr7:124206200-124207400	Enhancers	Hela-S3	cervix
5	chr7:124206400-124207000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:124206400-124207200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:124206400-124207200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:124206400-124207200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:124206400-124207200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:124206400-124207400	Enhancers	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

what's new

Quick links