Variant report

Variant	rs58187111
Chromosome Location	chr14:63674431-63674432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17093475	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100865	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146941	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55892114	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56871823	0.90[ASN][1000 genomes]
rs58799281	0.90[ASN][1000 genomes]
rs66514279	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67466036	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145437	1.00[ASN][1000 genomes]
rs72712549	1.00[ASN][1000 genomes]
rs72712550	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712551	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv902017	chr14:63604188-63674832	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63670400-63674600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:63670400-63674600	Active TSS	Psoas Muscle	Psoas
3	chr14:63670400-63674600	Active TSS	Right Atrium	heart
4	chr14:63670400-63674600	Active TSS	Stomach Smooth Muscle	stomach
5	chr14:63670600-63674600	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr14:63671200-63675800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:63672000-63717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:63672200-63681400	Weak transcription	Lung	lung
9	chr14:63672200-63683400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:63673000-63674600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:63673000-63675200	Weak transcription	NHLF	lung
12	chr14:63673000-63676000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:63673000-63678000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:63673000-63681200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:63673000-63682600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:63673200-63675600	Weak transcription	HMEC	breast
17	chr14:63673200-63676400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
18	chr14:63673200-63680200	Weak transcription	Fetal Intestine Large	intestine
19	chr14:63673200-63681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:63673400-63674600	Enhancers	Ovary	ovary
21	chr14:63673400-63675800	Weak transcription	Aorta	Aorta
22	chr14:63673400-63691000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:63673600-63677600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:63673600-63678400	Weak transcription	Fetal Muscle Leg	muscle
25	chr14:63673600-63689800	Weak transcription	Colon Smooth Muscle	Colon
26	chr14:63673800-63677000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:63674000-63675200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:63674200-63674600	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr14:63674200-63674600	Enhancers	Fetal Lung	lung
30	chr14:63674200-63674600	Enhancers	Fetal Stomach	stomach
31	chr14:63674200-63674600	Flanking Active TSS	NH-A	brain
32	chr14:63674200-63674800	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
33	chr14:63674200-63675800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:63674400-63674600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr14:63674400-63674800	Enhancers	Duodenum Mucosa	Duodenum

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