Variant report

Variant	rs73326050
Chromosome Location	chr14:80042457-80042458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10134188	0.82[AFR][1000 genomes]
rs10148779	0.98[ASN][1000 genomes]
rs1364604	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544726	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544842	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17764137	0.87[ASN][1000 genomes]
rs2371058	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59300744	0.95[ASN][1000 genomes]
rs61153207	0.80[AFR][1000 genomes]
rs7141526	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148240	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154918	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7156216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7160334	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73326053	0.81[AFR][1000 genomes]
rs9323674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652379	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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	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

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	chr14:80037000-80044600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:80038000-80043400	Weak transcription	Aorta	Aorta
4	chr14:80039200-80043200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:80039800-80046200	Weak transcription	HSMMtube	muscle
6	chr14:80040000-80049400	Weak transcription	HSMM	muscle
7	chr14:80040200-80042800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:80040600-80043000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr14:80041000-80042800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:80041000-80043000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:80041600-80044800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:80041600-80044800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:80041800-80046600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:80042000-80042600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:80042000-80044200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:80042200-80042800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:80042200-80042800	Enhancers	Fetal Lung	lung
18	chr14:80042200-80043000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:80042200-80043000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr14:80042200-80043400	Enhancers	Fetal Muscle Leg	muscle
21	chr14:80042200-80043600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:80042200-80051200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:80042400-80043000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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