Variant report

Variant	rs58357059
Chromosome Location	chr14:80046380-80046381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11847465	0.84[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]
rs59078244	1.00[AMR][1000 genomes]
rs59472910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59693725	0.84[AFR][1000 genomes]
rs59809006	1.00[AMR][1000 genomes]
rs60319911	1.00[AMR][1000 genomes]
rs60502118	1.00[AMR][1000 genomes]
rs60734338	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61002775	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61029849	0.97[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068054	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068066	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068072	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74068091	0.81[AFR][1000 genomes];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: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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80040000-80049400	Weak transcription	HSMM	muscle
3	chr14:80041800-80046600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:80042200-80051200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:80043200-80047000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:80043400-80046800	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:80043600-80050600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr14:80044800-80047600	Weak transcription	A549	lung
9	chr14:80045000-80046600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:80045000-80047400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:80045000-80052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:80045000-80052200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:80045200-80046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:80045200-80046800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:80045200-80046800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:80045200-80046800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:80045200-80046800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:80045200-80046800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:80045200-80046800	Weak transcription	NH-A	brain
20	chr14:80045200-80047400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:80045200-80048400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:80045200-80048400	Weak transcription	Osteobl	bone
23	chr14:80045200-80049400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:80045200-80050800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr14:80045200-80057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:80045200-80062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:80045800-80048400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:80046200-80047400	Enhancers	Fetal Heart	heart
29	chr14:80046200-80048600	Enhancers	HSMMtube	muscle

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