Variant report

Variant	rs73280111
Chromosome Location	chr14:65827357-65827358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65824493..65826084-chr14:65827098..65828736,2	MCF-7	breast:
2	chr14:65723281..65726603-chr14:65825964..65828012,3	MCF-7	breast:
3	chr14:65826029..65827973-chr14:65840839..65842424,2	MCF-7	breast:
4	chr14:65820651..65828097-chr14:65876794..65881062,12	MCF-7	breast:
5	chr14:65820274..65829265-chr14:65876318..65881127,26	MCF-7	breast:
6	chr14:65825848..65828815-chr14:65843230..65844945,2	MCF-7	breast:
7	chr14:65694260..65697862-chr14:65826001..65829124,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs17102600	0.84[AFR][1000 genomes]
rs56921348	0.84[AFR][1000 genomes]
rs57134875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309452	0.91[AFR][1000 genomes]
rs58794139	0.91[AFR][1000 genomes]
rs58832122	1.00[AMR][1000 genomes]
rs59515554	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59633486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61155946	1.00[AMR][1000 genomes]
rs61226824	1.00[AMR][1000 genomes]
rs73278046	0.84[AFR][1000 genomes]
rs73278048	1.00[AFR][1000 genomes]
rs73278079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282289	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282292	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282299	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73282301	1.00[AMR][1000 genomes]
rs73282302	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73284186	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286112	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286126	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286127	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8016432	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65816800-65828000	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:65821600-65831600	Weak transcription	Esophagus	oesophagus
3	chr14:65821800-65828800	Weak transcription	Psoas Muscle	Psoas
4	chr14:65822600-65834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:65823400-65828600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:65823600-65828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:65823600-65829000	Weak transcription	HSMM	muscle
8	chr14:65823800-65828600	Weak transcription	Osteobl	bone
9	chr14:65824200-65828200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:65824200-65828800	Weak transcription	NH-A	brain
11	chr14:65824400-65829000	Weak transcription	Placenta	Placenta
12	chr14:65824400-65839800	Weak transcription	Primary T cells from cord blood	blood
13	chr14:65824600-65828600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:65824600-65828600	Weak transcription	NHDF-Ad	bronchial
15	chr14:65824600-65829000	Weak transcription	Hela-S3	cervix
16	chr14:65824600-65833200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:65824600-65839800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:65824800-65828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:65824800-65828800	Weak transcription	Fetal Lung	lung
20	chr14:65824800-65836200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:65825000-65828200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:65826000-65827400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:65826000-65827400	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr14:65826000-65827400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:65826000-65827400	Enhancers	HMEC	breast
26	chr14:65826000-65827400	Enhancers	NHEK	skin
27	chr14:65826000-65827600	Enhancers	Stomach Mucosa	stomach
28	chr14:65826000-65827800	Enhancers	GM12878-XiMat	blood
29	chr14:65826400-65827400	Enhancers	Colon Smooth Muscle	Colon
30	chr14:65826400-65827400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr14:65826400-65827600	Enhancers	HSMMtube	muscle
32	chr14:65826400-65840000	Weak transcription	Brain Substantia Nigra	brain
33	chr14:65826600-65827400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:65826600-65828800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:65826600-65828800	Weak transcription	Small Intestine	intestine
36	chr14:65827000-65827400	Enhancers	Fetal Stomach	stomach
37	chr14:65827000-65827800	Enhancers	Primary B cells from cord blood	blood
38	chr14:65827200-65827400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:65827200-65827400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:65827200-65827400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:65827200-65827400	Enhancers	Brain Angular Gyrus	brain
42	chr14:65827200-65827400	Enhancers	Right Ventricle	heart
43	chr14:65827200-65827600	Enhancers	Fetal Intestine Large	intestine
44	chr14:65827200-65827800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:65827200-65828200	Weak transcription	Brain Hippocampus Middle	brain

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