Variant report

Variant	rs72819905
Chromosome Location	chr2:98926412-98926413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10170356	0.81[EUR][1000 genomes]
rs17429187	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17429299	0.91[EUR][1000 genomes]
rs4281956	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55749068	0.91[EUR][1000 genomes]
rs56149802	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6543413	0.81[EUR][1000 genomes]
rs6714220	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008645	chr2:98915767-99010743	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98918800-98928600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:98925600-98926600	Enhancers	Gastric	stomach
3	chr2:98926000-98926800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:98926200-98927000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:98926200-98927000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:98926400-98926600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:98926400-98926600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:98926400-98927000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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