Variant report

Variant	rs72725792
Chromosome Location	chr14:70309038-70309039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11624301	1.00[ASN][1000 genomes]
rs11626145	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11628994	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2148500	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56176047	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56387453	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61408837	0.87[AMR][1000 genomes]
rs72725773	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72725776	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72725780	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72725793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725798	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725799	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72725801	0.81[EUR][1000 genomes]
rs943273	0.88[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70306400-70311200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70306600-70310600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:70307200-70310800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:70307400-70309200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70307600-70311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:70307800-70310200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:70307800-70310200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:70307800-70310600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70308000-70310000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:70308000-70310400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr14:70308200-70310000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr14:70308200-70310000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:70308200-70310200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:70308200-70310200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr14:70308200-70310200	Enhancers	Fetal Brain Male	brain
16	chr14:70308200-70311200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:70308400-70309200	Weak transcription	Fetal Brain Female	brain
18	chr14:70308600-70309800	Enhancers	HepG2	liver
19	chr14:70308800-70309200	Enhancers	Brain Germinal Matrix	brain
20	chr14:70308800-70309400	Enhancers	Fetal Stomach	stomach
21	chr14:70308800-70310200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:70309000-70310200	Enhancers	HUES48 Cell Line	embryonic stem cell

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