Variant report

Variant	rs12518253
Chromosome Location	chr5:106802777-106802778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106802607..106804706-chr5:106804946..106806862,2	MCF-7	breast:
2	chr5:106796368..106798711-chr5:106802191..106804169,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11948482	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11949501	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11954938	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2288385	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs636137	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv462379	chr5:106789764-106806438	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv471037	chr5:106789764-106806438	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv599334	chr5:106789764-106806438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106792800-106804800	Weak transcription	Esophagus	oesophagus
2	chr5:106797800-106804600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:106799400-106805800	Enhancers	HMEC	breast
4	chr5:106799400-106806400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:106799600-106806200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:106799600-106806200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:106799600-106806200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:106799600-106806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:106799600-106806400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:106799600-106806800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:106799600-106807000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:106799600-106807200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:106799600-106808200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:106799600-106811200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:106799600-106811800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:106799800-106803200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:106799800-106803600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:106799800-106803600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:106799800-106805200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr5:106799800-106805200	Enhancers	NHEK	skin
21	chr5:106799800-106805600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:106799800-106806000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:106799800-106811000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:106800000-106802800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:106800000-106806000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:106800200-106804200	Weak transcription	NHLF	lung
27	chr5:106800400-106804200	Weak transcription	Aorta	Aorta
28	chr5:106800600-106803000	Weak transcription	Fetal Lung	lung
29	chr5:106800600-106804000	Weak transcription	Dnd41	blood
30	chr5:106800600-106804600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:106800600-106804800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:106800800-106804800	Weak transcription	GM12878-XiMat	blood
33	chr5:106801200-106803600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:106801600-106802800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr5:106801600-106802800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:106801600-106803000	Flanking Active TSS	A549	lung
37	chr5:106801600-106804800	Enhancers	HUVEC	blood vessel
38	chr5:106801600-106806400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:106801800-106803400	Weak transcription	Spleen	Spleen
40	chr5:106802000-106803000	Weak transcription	Fetal Intestine Small	intestine
41	chr5:106802000-106803800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:106802000-106805400	Enhancers	Fetal Heart	heart
43	chr5:106802200-106803200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:106802200-106804600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr5:106802200-106804800	Weak transcription	Fetal Thymus	thymus
46	chr5:106802200-106805000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:106802400-106803400	Weak transcription	Stomach Mucosa	stomach
48	chr5:106802400-106803600	Enhancers	Primary T cells fromperipheralblood	blood
49	chr5:106802400-106804200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:106802400-106804800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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