Variant report

Variant	rs12586522
Chromosome Location	chr14:81888384-81888385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr14:81888299-81888417	K562	blood:	n/a	n/a
2	GATA3	chr14:81888169-81888566	T-47D	breast:	n/a	n/a
3	EP300	chr14:81888240-81888505	K562	blood:	n/a	n/a
4	POLR2A	chr14:81888146-81888874	K562	blood:	n/a	n/a
5	GATA3	chr14:81888193-81888472	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:81883893..81885639-chr14:81886107..81889041,2	K562	blood:
2	chr14:81867029..81868586-chr14:81887440..81889989,2	K562	blood:
3	chr14:81880605..81883337-chr14:81885961..81888667,2	K562	blood:
4	chr14:81863995..81866651-chr14:81886548..81889424,2	MCF-7	breast:

No data

Variant related genes	Relation type
STON2	TF binding region
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11159500	0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12100504	1.00[AMR][1000 genomes]
rs12100962	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12100967	0.81[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs12101219	0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12185025	1.00[YRI][hapmap]
rs12434541	1.00[YRI][hapmap]
rs12435998	1.00[YRI][hapmap]
rs12586556	1.00[AMR][1000 genomes]
rs12586611	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586817	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12589111	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]
rs12589155	1.00[AMR][1000 genomes]
rs12589750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590539	0.86[ASN][1000 genomes]
rs17111805	1.00[YRI][hapmap]
rs17111807	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111815	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs17111817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111825	0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17111839	0.81[JPT][hapmap]
rs17111840	0.81[JPT][hapmap]
rs17111848	0.81[CHB][hapmap]
rs17560087	1.00[YRI][hapmap]
rs1998386	1.00[YRI][hapmap]
rs2371601	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28409508	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3853422	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60733078	0.96[ASN][1000 genomes]
rs731389	0.90[JPT][hapmap];1.00[AMR][1000 genomes]
rs731390	0.81[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73344113	0.96[ASN][1000 genomes]
rs73344115	0.96[ASN][1000 genomes]
rs73344119	0.96[ASN][1000 genomes]
rs73344128	0.86[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:46 , 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	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
3	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:81865000-81889400	Weak transcription	Ovary	ovary
5	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:81867800-81889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:81874800-81892600	Weak transcription	Hela-S3	cervix
10	chr14:81881000-81892000	Weak transcription	HMEC	breast
11	chr14:81881600-81888400	Weak transcription	Psoas Muscle	Psoas
12	chr14:81883000-81893000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:81883600-81888400	Weak transcription	Placenta	Placenta
14	chr14:81884000-81888800	Weak transcription	Adipose Nuclei	Adipose
15	chr14:81884400-81889000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr14:81885200-81893600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:81885200-81893600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:81885600-81890000	Weak transcription	Liver	Liver
19	chr14:81885800-81889200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:81886000-81888400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:81886000-81888600	Strong transcription	Fetal Muscle Leg	muscle
22	chr14:81886000-81891000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:81886200-81888600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:81886200-81893600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:81886200-81894000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:81886400-81893600	Weak transcription	Gastric	stomach
27	chr14:81886600-81892000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:81886600-81893600	Weak transcription	NHEK	skin
29	chr14:81886800-81890000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:81886800-81893600	Weak transcription	Esophagus	oesophagus
31	chr14:81886800-81894000	Weak transcription	Fetal Intestine Small	intestine
32	chr14:81887000-81890000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:81887200-81888400	Genic enhancers	K562	blood
34	chr14:81887400-81888400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:81887400-81891200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:81887400-81891200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:81887400-81892400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:81887400-81893600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:81887600-81893400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:81888000-81888800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr14:81888000-81890800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr14:81888200-81888600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr14:81888200-81889400	Enhancers	Spleen	Spleen
44	chr14:81888200-81890400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr14:81888200-81890600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:81888200-81892000	Enhancers	Primary hematopoietic stem cells	blood

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