Variant report

Variant	rs4899392
Chromosome Location	chr14:71713223-71713224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71711940..71713445-chr14:71722921..71725630,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1000448	0.97[ASN][1000 genomes]
rs1000449	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11158903	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11622499	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11623541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627275	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17109189	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2190863	0.97[ASN][1000 genomes]
rs4902924	0.94[ASN][1000 genomes]
rs56398258	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149082	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1044090	chr14:71496198-71780026	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71708200-71713400	Weak transcription	NHEK	skin
2	chr14:71709000-71715200	Weak transcription	Fetal Brain Male	brain
3	chr14:71709600-71717800	Weak transcription	Fetal Lung	lung
4	chr14:71711600-71714000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:71711600-71714800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:71711600-71714800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:71711800-71714800	Weak transcription	Fetal Heart	heart
8	chr14:71712000-71714000	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:71712000-71714000	Enhancers	Primary T cells from cord blood	blood
10	chr14:71712000-71714000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:71712000-71714000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr14:71712000-71714200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:71712000-71714200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:71712000-71714400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:71712200-71713400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:71712200-71713400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:71712200-71713800	Weak transcription	NHDF-Ad	bronchial
18	chr14:71712200-71714000	Enhancers	Fetal Thymus	thymus
19	chr14:71712200-71714200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr14:71712200-71714200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr14:71712200-71714200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:71712200-71714200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr14:71712200-71714200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr14:71712200-71714400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:71712400-71713400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:71712400-71713400	Enhancers	Dnd41	blood
27	chr14:71712400-71713800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:71712400-71713800	ZNF genes & repeats	GM12878-XiMat	blood
29	chr14:71712400-71714000	Enhancers	Primary hematopoietic stem cells	blood
30	chr14:71712600-71713800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr14:71713000-71715400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:71713200-71713800	Weak transcription	Spleen	Spleen
33	chr14:71713200-71714000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr14:71713200-71714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:71713200-71714000	Enhancers	Thymus	Thymus
36	chr14:71713200-71714200	Enhancers	HUVEC	blood vessel
37	chr14:71713200-71715600	Enhancers	Osteobl	bone

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