Variant report

Variant	rs61995273
Chromosome Location	chr14:79451222-79451223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17108457	0.94[ASN][1000 genomes]
rs257210	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs31409	0.85[ASN][1000 genomes]
rs7146473	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8012310	0.89[ASN][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	nsv917249	chr14:79388181-79574717	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1041991	chr14:79394408-79644886	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1037112	chr14:79412455-79527656	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79449600-79451400	Weak transcription	NH-A	brain
2	chr14:79449600-79452400	Weak transcription	Osteobl	bone
3	chr14:79450400-79451800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr14:79450400-79451800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr14:79450400-79452400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr14:79450800-79451400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
7	chr14:79450800-79451600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:79450800-79451600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:79450800-79451800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:79450800-79452600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr14:79451000-79451400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr14:79451000-79451400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr14:79451000-79451600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:79451000-79452400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr14:79451000-79452600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:79451200-79452200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:79451200-79452800	Enhancers	Adipose Derived Mesenchymal Stem Cell 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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