Variant report

Variant	rs45442293
Chromosome Location	chr15:43619914-43619915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43619415-43621038	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:43619465-43619916	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr15:43619084-43620089	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr15:43618471-43623574	GM12891	blood:	n/a	n/a
5	POLR2A	chr15:43619307-43620004	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr15:43619376-43619948	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr15:43617884-43623229	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:43618045-43620940	K562	blood:	n/a	n/a
9	POLR2A	chr15:43619431-43623219	K562	blood:	n/a	n/a
10	POLR2A	chr15:43618735-43620944	K562	blood:	n/a	n/a
11	POLR2A	chr15:43617486-43620882	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr15:43619221-43621507	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:43619223-43620152	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:43619480-43620093	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr15:43619540-43620013	MCF-7	breast:	n/a	n/a
16	POLR2A	chr15:43617177-43620881	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43586330..43589415-chr15:43618040..43621005,4	K562	blood:
2	chr15:43618581..43624264-chr15:43661265..43664929,7	MCF-7	breast:
3	chr15:43478134..43480191-chr15:43618410..43620274,2	K562	blood:
4	chr15:43618584..43620563-chr15:43643035..43645762,2	K562	blood:
5	chr15:43586588..43588941-chr15:43618040..43620629,3	K562	blood:
6	chr15:43606393..43608534-chr15:43619037..43620672,2	MCF-7	breast:
7	chr15:43584770..43587744-chr15:43618210..43620882,2	MCF-7	breast:
8	chr15:43619535..43624096-chr15:43662038..43665421,4	K562	blood:
9	chr15:43571338..43574214-chr15:43618657..43622685,4	K562	blood:
10	chr15:43605237..43606957-chr15:43618740..43620246,2	K562	blood:
11	chr15:43618225..43620863-chr15:43639470..43641474,2	K562	blood:

No data

Variant related genes	Relation type
ADAL	TF binding region
ENSG00000140265	Chromatin interaction
ENSG00000166946	Chromatin interaction
ENSG00000137822	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs36008600	1.00[AMR][1000 genomes]
rs45484799	1.00[AMR][1000 genomes]
rs45506897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45569838	1.00[AFR][1000 genomes]
rs45576036	1.00[AMR][1000 genomes]
rs45615932	1.00[AMR][1000 genomes]
rs7176183	1.00[AMR][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	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1512	chr15:43616834-43661646	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43609000-43620200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:43611600-43620200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:43613000-43620600	Weak transcription	Right Atrium	heart
4	chr15:43613600-43620200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:43615000-43621000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:43615600-43620600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:43615800-43620600	Weak transcription	Brain Substantia Nigra	brain
8	chr15:43616400-43620600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:43616400-43620600	Weak transcription	HSMM	muscle
10	chr15:43616800-43620200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:43616800-43620400	Weak transcription	Fetal Intestine Large	intestine
12	chr15:43616800-43620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:43616800-43620600	Weak transcription	Fetal Brain Male	brain
14	chr15:43617000-43620000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:43617000-43620000	Weak transcription	NHDF-Ad	bronchial
16	chr15:43617000-43620600	Weak transcription	Fetal Lung	lung
17	chr15:43617000-43621200	Weak transcription	Osteobl	bone
18	chr15:43617200-43620600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:43617200-43620800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:43617400-43620600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr15:43617600-43620600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr15:43617600-43620600	Weak transcription	A549	lung
23	chr15:43617800-43620200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr15:43617800-43620400	Weak transcription	Fetal Muscle Leg	muscle
25	chr15:43617800-43620600	Weak transcription	NHLF	lung
26	chr15:43617800-43620800	Enhancers	Psoas Muscle	Psoas
27	chr15:43618000-43620400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:43618000-43620600	Weak transcription	Small Intestine	intestine
29	chr15:43618000-43620600	Weak transcription	GM12878-XiMat	blood
30	chr15:43618200-43620400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:43618200-43620600	Weak transcription	Gastric	stomach
32	chr15:43618200-43620600	Weak transcription	HMEC	breast
33	chr15:43618200-43620800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:43618200-43621400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:43618400-43620200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:43618400-43620600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr15:43618400-43620800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:43618600-43620600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr15:43618600-43620600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:43618600-43620600	Weak transcription	Adipose Nuclei	Adipose
41	chr15:43618600-43620600	Weak transcription	Left Ventricle	heart
42	chr15:43618800-43620600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:43618800-43620600	Weak transcription	NHEK	skin
44	chr15:43619000-43620600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:43619000-43620800	Weak transcription	Lung	lung
46	chr15:43619200-43620400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:43619200-43620600	Weak transcription	Placenta	Placenta
48	chr15:43619200-43620600	Weak transcription	Fetal Stomach	stomach
49	chr15:43619200-43621200	Weak transcription	HSMMtube	muscle
50	chr15:43619400-43620400	Weak transcription	Fetal Thymus	thymus

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