Variant report

Variant	rs58080394
Chromosome Location	chr14:65102859-65102860
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:64969082..64972428-chr14:65101982..65105034,6	MCF-7	breast:
2	chr14:65102703..65104469-chr14:65109001..65111503,2	MCF-7	breast:
3	chr14:64968284..64972899-chr14:65099732..65106261,9	MCF-7	breast:
4	chr14:65096029..65097733-chr14:65101219..65102871,2	MCF-7	breast:
5	chr14:65005746..65011576-chr14:65100375..65105465,11	MCF-7	breast:
6	chr14:65101924..65103493-chr14:65105064..65108032,2	MCF-7	breast:
7	chr14:65101784..65105032-chr14:65169385..65172923,3	MCF-7	breast:
8	chr14:65005436..65008898-chr14:65101749..65105481,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000259116	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17857382	1.00[AMR][1000 genomes]
rs45557336	1.00[AMR][1000 genomes]
rs58076807	1.00[AMR][1000 genomes]
rs60825477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61212101	1.00[AMR][1000 genomes]
rs61457510	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740636	1.00[AMR][1000 genomes]
rs73267723	1.00[AMR][1000 genomes]
rs73267741	1.00[AMR][1000 genomes]
rs73267790	1.00[AMR][1000 genomes]
rs73269707	1.00[AMR][1000 genomes]
rs73269729	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269736	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269759	0.84[AFR][1000 genomes]
rs73269785	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269788	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271619	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65092600-65103000	Weak transcription	Fetal Muscle Leg	muscle
2	chr14:65093000-65103000	Weak transcription	Fetal Intestine Small	intestine
3	chr14:65095800-65103000	Weak transcription	Esophagus	oesophagus
4	chr14:65095800-65103000	Weak transcription	Stomach Mucosa	stomach
5	chr14:65096000-65103000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:65096000-65103000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:65096000-65105600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:65096000-65106200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:65096200-65103000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:65096600-65103200	Weak transcription	NHEK	skin
11	chr14:65096800-65104200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:65096800-65104400	Weak transcription	NHDF-Ad	bronchial
13	chr14:65097800-65103200	Weak transcription	NHLF	lung
14	chr14:65099200-65103200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:65099400-65111600	Weak transcription	Osteobl	bone
16	chr14:65099600-65103000	Weak transcription	Brain Anterior Caudate	brain
17	chr14:65099600-65103000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:65099600-65103000	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:65099600-65103000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:65099600-65103000	Weak transcription	Brain Substantia Nigra	brain
21	chr14:65099600-65103000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr14:65099600-65103200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:65099600-65104400	Weak transcription	Fetal Lung	lung
24	chr14:65100200-65103000	Weak transcription	Fetal Intestine Large	intestine
25	chr14:65100200-65103000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr14:65100400-65103000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:65100400-65103000	Weak transcription	Colonic Mucosa	Colon
28	chr14:65100400-65103000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:65100400-65103200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr14:65100600-65103000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:65100600-65103000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:65100600-65103000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:65100600-65103200	Weak transcription	Spleen	Spleen
34	chr14:65100800-65103000	Weak transcription	Placenta	Placenta
35	chr14:65100800-65103000	Weak transcription	Hela-S3	cervix
36	chr14:65101600-65103000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:65101600-65103000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:65101800-65103000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:65101800-65103400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:65101800-65104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:65102000-65103000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:65102000-65103200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:65102400-65104600	Enhancers	A549	lung
44	chr14:65102800-65103400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:65102800-65103800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:65102800-65103800	Enhancers	Brain Angular Gyrus	brain

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