Variant report

Variant	rs245451
Chromosome Location	chr5:14213452-14213453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14212915..14215891-chr5:14216884..14220454,4	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13184670	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs151901	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs151902	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs164858	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs187386	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245447	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245448	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs245470	0.97[EUR][1000 genomes]
rs245512	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26057	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs26059	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26060	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26061	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs27665	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs27759	0.97[EUR][1000 genomes]
rs28010	0.97[EUR][1000 genomes]
rs32335	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs32339	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs32341	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs32388	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs32389	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs32390	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs32391	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs32394	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs32395	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs354298	0.97[EUR][1000 genomes]
rs354299	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs354300	0.97[EUR][1000 genomes]
rs354301	0.95[EUR][1000 genomes]
rs354302	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs354310	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs354311	0.96[EUR][1000 genomes]
rs354312	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35594035	0.91[EUR][1000 genomes]
rs397098	0.95[EUR][1000 genomes]
rs407517	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs424275	0.97[EUR][1000 genomes]
rs445553	0.97[EUR][1000 genomes]
rs533517	0.97[EUR][1000 genomes]
rs56235530	0.82[AMR][1000 genomes];0.96[EUR][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	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
2	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
3	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
4	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
5	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14200600-14217000	Weak transcription	Fetal Brain Male	brain
2	chr5:14203800-14214600	Enhancers	Fetal Thymus	thymus
3	chr5:14204000-14216800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:14205000-14214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:14205400-14214000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:14205400-14214200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:14205400-14215000	Enhancers	Fetal Intestine Large	intestine
8	chr5:14205400-14216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:14205400-14218800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:14205600-14216000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:14205800-14215600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:14206800-14218800	Weak transcription	Esophagus	oesophagus
13	chr5:14207600-14214800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:14208400-14213800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:14209000-14214000	Enhancers	NHEK	skin
16	chr5:14209000-14214600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:14209000-14218000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:14209200-14214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:14209200-14214600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:14209200-14214600	Enhancers	NHLF	lung
21	chr5:14209600-14214200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:14210200-14214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:14210200-14216800	Weak transcription	Placenta	Placenta
24	chr5:14210400-14213800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:14210400-14214000	Weak transcription	Gastric	stomach
26	chr5:14210400-14215000	Enhancers	Fetal Intestine Small	intestine
27	chr5:14210400-14216600	Weak transcription	Fetal Stomach	stomach
28	chr5:14210600-14214200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:14210600-14216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:14210600-14216800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:14210600-14217000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr5:14210600-14217000	Weak transcription	Pancreas	Pancrea
33	chr5:14210600-14217000	Weak transcription	Spleen	Spleen
34	chr5:14211200-14214000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:14211200-14214000	Weak transcription	Ovary	ovary
36	chr5:14211400-14215000	Enhancers	Colon Smooth Muscle	Colon
37	chr5:14211400-14216200	Weak transcription	Hela-S3	cervix
38	chr5:14211800-14214200	Enhancers	Primary hematopoietic stem cells	blood
39	chr5:14211800-14214400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:14212000-14214000	Enhancers	Stomach Smooth Muscle	stomach
41	chr5:14212000-14214200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:14212000-14214200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:14212000-14214400	Enhancers	HMEC	breast
44	chr5:14212200-14214200	Enhancers	Osteobl	bone
45	chr5:14212200-14214600	Enhancers	Fetal Lung	lung
46	chr5:14212200-14214800	Enhancers	Liver	Liver
47	chr5:14212200-14216600	Weak transcription	Fetal Brain Female	brain
48	chr5:14212200-14218000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:14212400-14213800	Enhancers	Primary T cells from cord blood	blood
50	chr5:14212400-14214600	Enhancers	Skeletal Muscle Female	skeletal muscle

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