Variant report

Variant	rs59472910
Chromosome Location	chr14:80040975-80040976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11847465	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11848738	1.00[AMR][1000 genomes]
rs11852085	1.00[AMR][1000 genomes]
rs55708063	1.00[AMR][1000 genomes]
rs57252489	1.00[AMR][1000 genomes]
rs57281369	1.00[AMR][1000 genomes]
rs57656995	1.00[AMR][1000 genomes]
rs58351352	1.00[AMR][1000 genomes]
rs58357059	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59078244	1.00[AMR][1000 genomes]
rs59693725	0.87[AFR][1000 genomes]
rs59809006	1.00[AMR][1000 genomes]
rs60319911	1.00[AMR][1000 genomes]
rs60502118	1.00[AMR][1000 genomes]
rs60734338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61002775	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61029849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61309702	1.00[AMR][1000 genomes]
rs72696784	1.00[AMR][1000 genomes]
rs74068005	1.00[AMR][1000 genomes]
rs74068052	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068054	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068066	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068072	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068091	1.00[AMR][1000 genomes]
rs74068696	1.00[AMR][1000 genomes]
rs74070211	1.00[AMR][1000 genomes]
rs74070212	1.00[AMR][1000 genomes]
rs74070239	1.00[AMR][1000 genomes]
rs74070242	1.00[AMR][1000 genomes]
rs74070257	1.00[AMR][1000 genomes]
rs74070258	1.00[AMR][1000 genomes]
rs74070263	1.00[AMR][1000 genomes]
rs74070265	1.00[AMR][1000 genomes]
rs74070266	1.00[AMR][1000 genomes]
rs74070271	1.00[AMR][1000 genomes]
rs74070273	1.00[AMR][1000 genomes]
rs74070276	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv518333	chr14:80035594-80041626	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80035400-80041200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:80035600-80041000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:80035600-80041200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:80035600-80041200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:80035600-80041200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:80035600-80041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:80037000-80044600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr14:80038000-80042000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr14:80038000-80042200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:80038000-80042400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:80038000-80043400	Weak transcription	Aorta	Aorta
13	chr14:80038200-80041600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:80038600-80042200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:80039200-80043200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:80039600-80041200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:80039800-80046200	Weak transcription	HSMMtube	muscle
18	chr14:80040000-80041200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:80040000-80041200	Weak transcription	Fetal Lung	lung
20	chr14:80040000-80049400	Weak transcription	HSMM	muscle
21	chr14:80040200-80041400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr14:80040200-80042800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:80040600-80043000	Enhancers	HUES64 Cell Line	embryonic stem cell

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