Variant report

Variant	rs2453522
Chromosome Location	chr15:45740624-45740625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr15:45740256-45741095	Hela-S3	cervix:	n/a	chr15:45740646-45740656
2	CHD2	chr15:45740237-45740640	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr15:45740084-45741150	IMR90	lung:	n/a	chr15:45740646-45740656
4	POLR2A	chr15:45740180-45740732	Hela-S3	cervix:	n/a	n/a
5	MAX	chr15:45740256-45741043	Hela-S3	cervix:	n/a	chr15:45740646-45740656
6	CEBPB	chr15:45740235-45740650	Hela-S3	cervix:	n/a	n/a
7	ELK1	chr15:45740399-45740869	Hela-S3	cervix:	n/a	n/a
8	SMARCC1	chr15:45740184-45741352	Hela-S3	cervix:	n/a	chr15:45740463-45740472
9	ZKSCAN1	chr15:45740580-45740920	Hela-S3	cervix:	n/a	n/a
10	EBF1	chr15:45740179-45740664	GM12878	blood:	n/a	n/a
11	CEBPB	chr15:45740270-45740734	IMR90	lung:	n/a	n/a
12	EBF1	chr15:45740218-45740633	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45736069..45742318-chr15:45926037..45929619,6	MCF-7	breast:

Variant related genes	Relation type
RNU7-5P	TF binding region
ENSG00000259354	TF binding region
ENSG00000137767	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1153834	0.84[YRI][hapmap]
rs1295502	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2433620	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2433621	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453526	0.85[YRI][hapmap]
rs2467866	0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2467867	0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486278	0.87[YRI][hapmap]
rs2486281	0.94[YRI][hapmap]
rs2486282	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7165404	0.90[AMR][1000 genomes]
rs7168380	0.90[AMR][1000 genomes]
rs7176047	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv442701	chr15:45737096-45748752	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45738200-45746600	Weak transcription	Osteobl	bone
2	chr15:45738400-45742000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:45738400-45742000	Enhancers	Stomach Mucosa	stomach
4	chr15:45739000-45741400	Weak transcription	Liver	Liver
5	chr15:45739200-45742000	Weak transcription	Pancreas	Pancrea
6	chr15:45739400-45740800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:45740000-45740800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:45740000-45741600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr15:45740200-45740800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:45740200-45740800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:45740200-45740800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:45740200-45740800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr15:45740200-45741000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:45740200-45741000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:45740200-45741000	Enhancers	Esophagus	oesophagus
16	chr15:45740200-45741000	Enhancers	Lung	lung
17	chr15:45740200-45741000	Enhancers	Small Intestine	intestine
18	chr15:45740200-45741000	Enhancers	HSMMtube	muscle
19	chr15:45740200-45741000	Enhancers	NHDF-Ad	bronchial
20	chr15:45740200-45741200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:45740200-45741200	Enhancers	NH-A	brain
22	chr15:45740200-45741400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr15:45740200-45741400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:45740200-45741400	Enhancers	Placenta	Placenta
25	chr15:45740200-45741400	Enhancers	Gastric	stomach
26	chr15:45740200-45741600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:45740200-45742000	Enhancers	Duodenum Mucosa	Duodenum
28	chr15:45740400-45740800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr15:45740400-45740800	Flanking Active TSS	Colonic Mucosa	Colon
30	chr15:45740400-45740800	Enhancers	HMEC	breast
31	chr15:45740400-45741000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:45740400-45741000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:45740400-45741000	Enhancers	Spleen	Spleen
34	chr15:45740400-45741200	Enhancers	HSMM	muscle
35	chr15:45740400-45741400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:45740400-45741400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr15:45740400-45741400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:45740400-45741400	Flanking Active TSS	Hela-S3	cervix
39	chr15:45740400-45742000	Enhancers	Fetal Intestine Large	intestine
40	chr15:45740400-45742000	Enhancers	Fetal Intestine Small	intestine
41	chr15:45740400-45743000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr15:45740600-45740800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:45740600-45740800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr15:45740600-45740800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:45740600-45740800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr15:45740600-45740800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr15:45740600-45741000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr15:45740600-45741000	Flanking Active TSS	A549	lung
49	chr15:45740600-45741200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr15:45740600-45741600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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