Variant report

Variant	rs2730550
Chromosome Location	chr12:119055017-119055018
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11610340	0.84[CEU][hapmap]
rs11613463	0.81[EUR][1000 genomes]
rs1520780	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1851093	0.84[CEU][hapmap]
rs2176906	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2468265	0.99[ASN][1000 genomes]
rs2682738	0.85[EUR][1000 genomes]
rs2682778	0.83[EUR][1000 genomes]
rs2682789	0.82[EUR][1000 genomes]
rs2730551	0.85[EUR][1000 genomes]
rs2730553	0.85[EUR][1000 genomes]
rs7978580	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956866	0.81[EUR][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	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1043906	chr12:118991884-119087146	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2730550	PLBD2	cis	cerebellum	SCAN
rs2730550	MLEC	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119049000-119056400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:119049400-119059800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:119051800-119055200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:119052200-119055600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:119054800-119055400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:119054800-119055400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:119055000-119055400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:119055000-119055600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:119055000-119056400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:119055000-119057200	Enhancers	Cortex derived primary cultured neurospheres	brain

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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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