Variant report

Variant	rs12432219
Chromosome Location	chr14:56379501-56379502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12431769	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435758	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17128889	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898876	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898877	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723590	1.00[ASN][1000 genomes]
rs72723598	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56371600-56381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:56373200-56392000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:56375600-56380400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:56377000-56380400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:56377000-56380800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:56377600-56382400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:56378000-56380600	Weak transcription	Right Atrium	heart
8	chr14:56378000-56381600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:56378000-56382200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:56378200-56379600	Weak transcription	NH-A	brain
11	chr14:56378200-56380600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:56378400-56380400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:56379200-56380400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:56379200-56381600	Enhancers	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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