Variant report

Variant	rs12589111
Chromosome Location	chr14:81897455-81897456
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr14:81897285-81897529	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81857190..81860023-chr14:81897316..81899061,2	K562	blood:
2	chr14:81686434..81690024-chr14:81894186..81899111,7	K562	blood:
3	chr14:81876407..81878625-chr14:81895373..81897999,2	K562	blood:
4	chr14:81865299..81866947-chr14:81897451..81900314,2	K562	blood:

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

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11159500	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12100504	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12100962	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12100967	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs12101219	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12185025	1.00[YRI][hapmap]
rs12434541	1.00[YRI][hapmap]
rs12435998	1.00[YRI][hapmap]
rs12586522	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12586556	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12586611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12586817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12589155	1.00[AMR][1000 genomes]
rs12589750	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12590539	0.96[ASN][1000 genomes]
rs17111805	1.00[YRI][hapmap]
rs17111807	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17111815	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17111817	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17111825	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17111839	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17111840	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs17111848	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs17560087	1.00[YRI][hapmap]
rs1998386	1.00[YRI][hapmap]
rs2371601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28409508	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3853422	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60733078	0.86[ASN][1000 genomes]
rs72689300	0.85[AFR][1000 genomes]
rs72689302	0.85[AFR][1000 genomes]
rs72691409	0.85[AFR][1000 genomes]
rs72703756	0.85[AFR][1000 genomes]
rs72703758	0.85[AFR][1000 genomes]
rs72703764	0.85[AFR][1000 genomes]
rs731389	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs731390	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73344113	0.86[ASN][1000 genomes]
rs73344115	0.86[ASN][1000 genomes]
rs73344119	0.86[ASN][1000 genomes]
rs73344128	0.96[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	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:49 , 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	chr14:81893600-81897800	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	chr14:81894400-81898000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:81894400-81900800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:81894400-81901400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:81894600-81898200	Weak transcription	HMEC	breast
12	chr14:81894600-81898400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:81894600-81898600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:81894600-81898600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:81894600-81898600	Weak transcription	Brain Substantia Nigra	brain
16	chr14:81894600-81898600	Weak transcription	HSMMtube	muscle
17	chr14:81894600-81898800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:81894600-81899000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:81894600-81899400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:81894600-81899400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:81894600-81900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:81894800-81898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:81894800-81899600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:81894800-81899800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:81894800-81900000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr14:81894800-81901200	Weak transcription	Hela-S3	cervix
27	chr14:81895000-81898200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:81895000-81898200	Weak transcription	NHEK	skin
29	chr14:81895000-81899200	Weak transcription	Spleen	Spleen
30	chr14:81895400-81898800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:81896200-81898000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:81896200-81898200	Enhancers	Fetal Muscle Leg	muscle
33	chr14:81896200-81900600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:81896200-81901000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:81896400-81897600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:81896400-81897600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:81896800-81897600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:81896800-81897600	Enhancers	Brain Anterior Caudate	brain
39	chr14:81896800-81897600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:81897000-81897600	Enhancers	Brain Germinal Matrix	brain
41	chr14:81897000-81897600	Enhancers	Psoas Muscle	Psoas
42	chr14:81897000-81898200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:81897000-81898400	Enhancers	K562	blood
44	chr14:81897000-81898400	Weak transcription	NHDF-Ad	bronchial
45	chr14:81897000-81901400	Weak transcription	Ovary	ovary
46	chr14:81897200-81897600	Enhancers	Liver	Liver
47	chr14:81897400-81897600	Enhancers	Primary hematopoietic stem cells	blood
48	chr14:81897400-81897600	Enhancers	Thymus	Thymus
49	chr14:81897400-81898600	Weak transcription	HSMM	muscle

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