Variant report

Variant	rs73344128
Chromosome Location	chr14:81896439-81896440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:81896323-81896619	K562	blood:	n/a	n/a
2	MAFF	chr14:81896272-81896546	K562	blood:	n/a	n/a
3	UBTF	chr14:81896415-81896719	K562	blood:	n/a	n/a
4	ZNF384	chr14:81896120-81896696	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81686434..81690024-chr14:81894186..81899111,7	K562	blood:
2	chr14:81849841..81851536-chr14:81894203..81896873,2	K562	blood:
3	chr14:81876407..81878625-chr14:81895373..81897999,2	K562	blood:
4	chr14:81684506..81688423-chr14:81892845..81897193,10	K562	blood:

No data

Variant related genes	Relation type
STON2	TF binding region
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12586522	0.86[ASN][1000 genomes]
rs12586556	0.84[ASN][1000 genomes]
rs12586611	0.86[ASN][1000 genomes]
rs12586817	0.96[ASN][1000 genomes]
rs12589111	0.96[ASN][1000 genomes]
rs12589750	0.86[ASN][1000 genomes]
rs12590539	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111794	0.94[EUR][1000 genomes]
rs17111807	0.86[ASN][1000 genomes]
rs17111815	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17111817	0.86[ASN][1000 genomes]
rs17111825	0.93[ASN][1000 genomes]
rs17111839	0.84[ASN][1000 genomes]
rs17111840	0.84[ASN][1000 genomes]
rs17111848	0.84[ASN][1000 genomes]
rs2371601	0.96[ASN][1000 genomes]
rs28409508	0.93[ASN][1000 genomes]
rs34922883	0.94[EUR][1000 genomes]
rs3853422	0.96[ASN][1000 genomes]
rs3900647	0.94[EUR][1000 genomes]
rs57035224	0.94[EUR][1000 genomes]
rs58535387	0.94[EUR][1000 genomes]
rs58975890	0.84[ASN][1000 genomes]
rs59919809	0.94[EUR][1000 genomes]
rs60733078	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73344113	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73344115	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73344119	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73344121	0.94[EUR][1000 genomes]
rs73344133	0.94[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:53 , 50 per page) page: 1 2

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	chr14:81893600-81897800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:81893600-81901400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr14:81894000-81901600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:81894200-81899200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr14:81894400-81896800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:81894400-81897000	Weak transcription	Brain Germinal Matrix	brain
10	chr14:81894400-81897200	Weak transcription	Liver	Liver
11	chr14:81894400-81898000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:81894400-81900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:81894400-81901400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr14:81894600-81896800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:81894600-81896800	Weak transcription	HSMM	muscle
16	chr14:81894600-81897000	Weak transcription	Adipose Nuclei	Adipose
17	chr14:81894600-81897000	Weak transcription	Fetal Kidney	kidney
18	chr14:81894600-81897000	Weak transcription	Fetal Lung	lung
19	chr14:81894600-81898200	Weak transcription	HMEC	breast
20	chr14:81894600-81898400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:81894600-81898600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:81894600-81898600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr14:81894600-81898600	Weak transcription	Brain Substantia Nigra	brain
24	chr14:81894600-81898600	Weak transcription	HSMMtube	muscle
25	chr14:81894600-81898800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:81894600-81899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:81894600-81899400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:81894600-81899400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:81894600-81900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:81894800-81896800	Weak transcription	Brain Anterior Caudate	brain
31	chr14:81894800-81898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:81894800-81899600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr14:81894800-81899800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:81894800-81900000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr14:81894800-81901200	Weak transcription	Hela-S3	cervix
36	chr14:81895000-81898200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:81895000-81898200	Weak transcription	NHEK	skin
38	chr14:81895000-81899200	Weak transcription	Spleen	Spleen
39	chr14:81895400-81896600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:81895400-81896800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:81895400-81898800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:81896200-81898000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:81896200-81898200	Enhancers	Fetal Muscle Leg	muscle
44	chr14:81896200-81900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:81896200-81901000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:81896400-81896600	Enhancers	Psoas Muscle	Psoas
47	chr14:81896400-81896600	Enhancers	Right Atrium	heart
48	chr14:81896400-81897000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:81896400-81897000	Enhancers	Ovary	ovary
50	chr14:81896400-81897000	Flanking Active TSS	K562	blood

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