Variant report

Variant	rs33028
Chromosome Location	chr5:14180433-14180434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:14180304-14181181	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14179287..14181889-chr5:14185448..14187309,2	MCF-7	breast:
2	chr5:14175254..14177607-chr5:14178876..14181098,2	MCF-7	breast:
3	chr5:14142296..14145562-chr5:14179804..14183456,3	MCF-7	breast:
4	chr5:14156677..14158288-chr5:14179472..14181137,2	MCF-7	breast:
5	chr5:14147688..14150262-chr5:14179544..14182482,2	MCF-7	breast:
6	chr5:14179684..14181395-chr5:14181871..14184690,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs152781	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs164109	0.81[YRI][hapmap]
rs245513	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463803	0.81[YRI][hapmap]
rs26290	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26292	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27632	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27666	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs32976	1.00[CEU][hapmap]
rs32977	1.00[CEU][hapmap]
rs32978	1.00[CEU][hapmap]
rs32979	1.00[CEU][hapmap]
rs33029	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33030	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs348113	1.00[CEU][hapmap]
rs348116	1.00[CEU][hapmap]
rs40298	1.00[CEU][hapmap]
rs42289	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344640	0.97[EUR][1000 genomes]
rs62346562	0.94[EUR][1000 genomes]
rs696289	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs696290	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs773764	0.82[ASW][hapmap]
rs773765	0.82[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1015479	chr5:13798819-14180804	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1030787	chr5:13799381-14180804	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14164600-14181600	Weak transcription	Esophagus	oesophagus
2	chr5:14174400-14183400	Weak transcription	Fetal Lung	lung
3	chr5:14174400-14184400	Weak transcription	Colonic Mucosa	Colon
4	chr5:14174600-14183000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr5:14174800-14181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:14174800-14181400	Weak transcription	Thymus	Thymus
7	chr5:14174800-14184000	Weak transcription	Fetal Kidney	kidney
8	chr5:14175000-14181400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:14175000-14184000	Weak transcription	Stomach Mucosa	stomach
10	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr5:14175200-14186400	Weak transcription	Primary B cells from cord blood	blood
12	chr5:14175600-14181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:14175800-14181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:14176600-14182800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:14177000-14180600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:14177400-14180800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:14177400-14181800	Enhancers	NHEK	skin
19	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:14177800-14183000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:14178000-14184400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:14178400-14182000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:14178600-14183000	Weak transcription	Gastric	stomach
24	chr5:14178600-14183800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:14178600-14187000	Enhancers	Left Ventricle	heart
26	chr5:14178800-14180800	Weak transcription	Aorta	Aorta
27	chr5:14178800-14182400	Weak transcription	Brain Anterior Caudate	brain
28	chr5:14178800-14183000	Weak transcription	Brain Substantia Nigra	brain
29	chr5:14178800-14183400	Enhancers	NHDF-Ad	bronchial
30	chr5:14178800-14184000	Enhancers	NH-A	brain
31	chr5:14179000-14180800	Enhancers	Lung	lung
32	chr5:14179000-14181000	Enhancers	Placenta	Placenta
33	chr5:14179000-14181000	Weak transcription	HUVEC	blood vessel
34	chr5:14179000-14181600	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:14179000-14183000	Weak transcription	Spleen	Spleen
36	chr5:14179000-14184800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr5:14179200-14180800	Weak transcription	HMEC	breast
38	chr5:14179200-14181400	Weak transcription	Brain Angular Gyrus	brain
39	chr5:14179200-14181400	Weak transcription	Brain Germinal Matrix	brain
40	chr5:14179200-14181400	Weak transcription	Fetal Heart	heart
41	chr5:14179200-14181400	Weak transcription	Right Ventricle	heart
42	chr5:14179200-14181400	Weak transcription	GM12878-XiMat	blood
43	chr5:14179200-14181600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:14179200-14181600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr5:14179200-14181600	Weak transcription	Psoas Muscle	Psoas
46	chr5:14179200-14181800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:14179200-14182200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:14179200-14183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:14179200-14183000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:14179200-14183000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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