Variant report

Variant	rs8013475
Chromosome Location	chr14:69246033-69246034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69132196..69134368-chr14:69245052..69247139,3	MCF-7	breast:
2	chr14:69124488..69126263-chr14:69245986..69248780,2	MCF-7	breast:
3	chr14:69231839..69233779-chr14:69245247..69247315,2	K562	blood:
4	chr14:69230966..69233869-chr14:69245224..69248622,3	MCF-7	breast:
5	chr14:69238784..69240441-chr14:69244509..69246381,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1051533	1.00[ASN][1000 genomes]
rs11847049	1.00[ASN][1000 genomes]
rs11851414	1.00[ASN][1000 genomes]
rs12147199	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12148044	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17757282	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55814645	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56020080	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56082161	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56095181	0.87[EUR][1000 genomes]
rs56119720	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56232028	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57786342	1.00[ASN][1000 genomes]
rs58638884	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59525232	0.96[AFR][1000 genomes]
rs60594327	0.96[AFR][1000 genomes]
rs72731526	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72731527	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72731529	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72731531	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72731532	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731534	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731535	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731537	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731538	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731539	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731544	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731547	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731549	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72731550	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72731551	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731554	0.84[EUR][1000 genomes]
rs73279125	0.96[AFR][1000 genomes]
rs73279127	0.95[AFR][1000 genomes]
rs73279130	0.95[AFR][1000 genomes]
rs735292	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69228600-69247000	Weak transcription	Esophagus	oesophagus
2	chr14:69233400-69247000	Weak transcription	Liver	Liver
3	chr14:69238400-69246600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:69238800-69246400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:69240000-69247000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:69240000-69247800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:69240400-69248600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:69242800-69247000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:69243000-69246400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:69243200-69246400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:69243800-69246800	Weak transcription	Spleen	Spleen
12	chr14:69244200-69246200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:69244200-69246400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:69244200-69249600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:69244400-69246200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:69244400-69246200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:69244400-69246400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr14:69244400-69246800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:69244400-69246800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:69244400-69246800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:69244400-69246800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:69244400-69247000	Enhancers	HSMM	muscle
23	chr14:69244400-69248600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:69244400-69248600	Enhancers	HSMMtube	muscle
25	chr14:69244400-69248600	Enhancers	NHLF	lung
26	chr14:69244400-69252200	Enhancers	Fetal Intestine Small	intestine
27	chr14:69244400-69253200	Enhancers	Fetal Intestine Large	intestine
28	chr14:69244400-69253600	Enhancers	Stomach Mucosa	stomach
29	chr14:69244600-69246600	Enhancers	NHDF-Ad	bronchial
30	chr14:69244600-69249600	Enhancers	Fetal Heart	heart
31	chr14:69244600-69250000	Enhancers	Fetal Lung	lung
32	chr14:69244800-69246200	Enhancers	Primary T cells from cord blood	blood
33	chr14:69244800-69246400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:69244800-69246400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr14:69244800-69246400	Enhancers	K562	blood
36	chr14:69244800-69246600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:69244800-69246600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr14:69244800-69246800	Enhancers	Duodenum Mucosa	Duodenum
39	chr14:69244800-69246800	Enhancers	NH-A	brain
40	chr14:69244800-69247000	Enhancers	Adipose Nuclei	Adipose
41	chr14:69244800-69249400	Enhancers	Colon Smooth Muscle	Colon
42	chr14:69245000-69246200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:69245000-69246800	Enhancers	Osteobl	bone
44	chr14:69245000-69249000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:69245000-69249600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:69245000-69249800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:69245200-69246600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:69245200-69247000	Weak transcription	Brain Angular Gyrus	brain
49	chr14:69245200-69250200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr14:69245400-69246400	Weak transcription	Stomach Smooth Muscle	stomach

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