Variant report

Variant	rs58535387
Chromosome Location	chr14:81898230-81898231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81857190..81860023-chr14:81897316..81899061,2	K562	blood:
2	chr14:81684220..81688666-chr14:81897892..81904337,14	K562	blood:
3	chr14:81686434..81690024-chr14:81894186..81899111,7	K562	blood:
4	chr14:81683389..81688783-chr14:81897521..81903580,11	MCF-7	breast:
5	chr14:81865299..81866947-chr14:81897451..81900314,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12590539	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17111794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17111815	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34922883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742551	1.00[ASN][1000 genomes]
rs3900647	1.00[EUR][1000 genomes]
rs57035224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57980855	1.00[ASN][1000 genomes]
rs59694925	1.00[ASN][1000 genomes]
rs59833833	1.00[ASN][1000 genomes]
rs59919809	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60733078	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344113	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344115	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344119	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73344121	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344128	0.94[EUR][1000 genomes]
rs73344133	0.94[AMR][1000 genomes];1.00[EUR][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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	esv1807931	chr14:81878972-81908605	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1842834	chr14:81878972-81908605	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv1844298	chr14:81878972-81908605	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:81892800-81898600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:81893000-81898600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:81893600-81901400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:81894000-81901600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:81894200-81899200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:81894400-81900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:81894400-81901400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:81894600-81898400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:81894600-81898600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:81894600-81898600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:81894600-81898600	Weak transcription	Brain Substantia Nigra	brain
13	chr14:81894600-81898600	Weak transcription	HSMMtube	muscle
14	chr14:81894600-81898800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:81894600-81899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:81894600-81899400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:81894600-81899400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:81894600-81900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:81894800-81898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:81894800-81899600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:81894800-81899800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:81894800-81900000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:81894800-81901200	Weak transcription	Hela-S3	cervix
24	chr14:81895000-81899200	Weak transcription	Spleen	Spleen
25	chr14:81895400-81898800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:81896200-81900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:81896200-81901000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:81897000-81898400	Enhancers	K562	blood
29	chr14:81897000-81898400	Weak transcription	NHDF-Ad	bronchial
30	chr14:81897000-81901400	Weak transcription	Ovary	ovary
31	chr14:81897400-81898600	Weak transcription	HSMM	muscle
32	chr14:81897600-81898600	Weak transcription	Brain Anterior Caudate	brain
33	chr14:81897600-81898600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:81897600-81898800	Weak transcription	Brain Germinal Matrix	brain
35	chr14:81897600-81898800	Weak transcription	Psoas Muscle	Psoas
36	chr14:81897600-81899800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:81897600-81900000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:81897600-81900600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:81897600-81900600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:81897600-81901400	Weak transcription	Liver	Liver
41	chr14:81898000-81899600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:81898000-81901400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:81898200-81898600	Weak transcription	Fetal Muscle Leg	muscle
44	chr14:81898200-81898600	Enhancers	NHEK	skin
45	chr14:81898200-81899200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:81898200-81901000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:81898200-81901200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:81898200-81901200	Enhancers	HMEC	breast

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