Variant report

Variant	rs58286051
Chromosome Location	chr15:74904824-74904825
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74904606-74904842	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:74904393-74906237	Hela-S3	cervix:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74831828..74838842-chr15:74904667..74909546,11	MCF-7	breast:
2	chr15:74831674..74835918-chr15:74904604..74909555,13	K562	blood:
3	chr15:74878053..74879728-chr15:74902621..74905091,2	MCF-7	breast:
4	chr15:74830417..74841177-chr15:74901572..74909407,24	K562	blood:
5	chr15:74883645..74887048-chr15:74903468..74905388,3	MCF-7	breast:
6	chr15:74903530..74906073-chr15:75051863..75054260,2	K562	blood:
7	chr15:74883904..74885997-chr15:74903287..74906186,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLK3	TF binding region
ENSG00000179361	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11547808	0.95[AFR][1000 genomes]
rs16968837	1.00[EUR][1000 genomes]
rs17861081	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861082	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861085	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861107	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861108	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17861121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362893	1.00[EUR][1000 genomes]
rs28362919	1.00[EUR][1000 genomes]
rs34255805	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35570076	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35646069	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36090160	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45527133	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986880	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986881	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986882	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4986884	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56042870	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57469673	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58573460	1.00[EUR][1000 genomes]
rs58763676	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59046618	1.00[EUR][1000 genomes]
rs59620060	1.00[EUR][1000 genomes]
rs59773112	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60032286	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60360792	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60439061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60525627	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60814674	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61204492	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74025855	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv1814078	chr15:74884447-74948063	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv457204	chr15:74885091-74948063	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv569991	chr15:74885091-74948063	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv542434	chr15:74885329-74929552	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1047943	chr15:74885329-74940857	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74891600-74907200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:74892200-74906000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:74892200-74906600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:74892400-74906000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:74892400-74906400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:74892400-74906600	Weak transcription	Primary T cells from cord blood	blood
7	chr15:74892400-74906600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:74893000-74906600	Weak transcription	Fetal Brain Female	brain
9	chr15:74893200-74906200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr15:74894400-74906200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:74895200-74906400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:74901000-74905800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:74903000-74906800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:74903000-74907000	Weak transcription	Lung	lung
15	chr15:74903000-74907000	Weak transcription	Spleen	Spleen
16	chr15:74903200-74906000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:74903400-74906600	Weak transcription	Fetal Intestine Small	intestine
18	chr15:74903600-74906400	Weak transcription	Brain Germinal Matrix	brain
19	chr15:74903600-74906600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:74903600-74906600	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:74903600-74906800	Weak transcription	Fetal Intestine Large	intestine
22	chr15:74903800-74906600	Weak transcription	Fetal Lung	lung
23	chr15:74903800-74906600	Weak transcription	Ovary	ovary
24	chr15:74903800-74906800	Weak transcription	Fetal Heart	heart
25	chr15:74904000-74906000	Weak transcription	K562	blood
26	chr15:74904000-74906600	Weak transcription	Pancreas	Pancrea
27	chr15:74904000-74906800	Weak transcription	Left Ventricle	heart
28	chr15:74904200-74906400	Weak transcription	Fetal Thymus	thymus
29	chr15:74904200-74906600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:74904200-74906600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr15:74904200-74906600	Weak transcription	Esophagus	oesophagus
32	chr15:74904200-74906600	Weak transcription	HMEC	breast
33	chr15:74904200-74906600	Weak transcription	NHEK	skin
34	chr15:74904200-74906800	Weak transcription	Right Atrium	heart
35	chr15:74904400-74906400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:74904400-74906600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:74904400-74906600	Weak transcription	Right Ventricle	heart
38	chr15:74904600-74906400	Weak transcription	Fetal Muscle Leg	muscle
39	chr15:74904800-74905000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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