Variant report

Variant	rs2730602
Chromosome Location	chr12:119055518-119055519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1520781	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1851094	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1970875	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2682734	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2682760	0.92[EUR][1000 genomes]
rs2682763	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2682773	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2730552	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2730562	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2730568	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2730574	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2730594	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[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	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

No data

Chromatin state (count:16 , 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	chr12:119052200-119055600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:119055000-119055600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:119055000-119056400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:119055000-119057200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:119055200-119056400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:119055200-119056600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:119055200-119056600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:119055400-119055600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:119055400-119055800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:119055400-119055800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:119055400-119055800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:119055400-119056000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:119055400-119056000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:119055400-119056600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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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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