Variant report

Variant	rs72760134
Chromosome Location	chr5:54132306-54132307
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56895413..56898195-chr5:54132169..54134689,2	MCF-7	breast:
2	chr5:54131587..54134276-chr5:54135808..54138723,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs72760125	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760135	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760137	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760143	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72760146	1.00[EUR][1000 genomes]
rs72760147	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54117200-54138000	Weak transcription	Aorta	Aorta
2	chr5:54126800-54133400	Enhancers	NHLF	lung
3	chr5:54127400-54135800	Enhancers	Fetal Intestine Small	intestine
4	chr5:54128600-54135000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:54128800-54133200	Enhancers	HUVEC	blood vessel
6	chr5:54129600-54134000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:54129600-54134000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:54129800-54132400	Enhancers	Fetal Heart	heart
9	chr5:54130000-54132600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:54130000-54135800	Enhancers	Fetal Intestine Large	intestine
11	chr5:54130200-54132400	Enhancers	Hela-S3	cervix
12	chr5:54130600-54132800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:54130600-54134000	Weak transcription	Pancreas	Pancrea
14	chr5:54130800-54132800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:54130800-54135000	Weak transcription	Right Atrium	heart
16	chr5:54131000-54133400	Enhancers	Osteobl	bone
17	chr5:54131000-54140800	Weak transcription	Adipose Nuclei	Adipose
18	chr5:54131200-54132400	Enhancers	Stomach Mucosa	stomach
19	chr5:54131600-54132400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:54132000-54132400	Enhancers	Gastric	stomach
21	chr5:54132000-54132800	Weak transcription	Liver	Liver
22	chr5:54132000-54133400	Enhancers	Fetal Stomach	stomach
23	chr5:54132000-54137000	Weak transcription	Placenta	Placenta
24	chr5:54132000-54140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:54132200-54132800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:54132200-54133000	Enhancers	Monocytes-CD14+_RO01746	blood

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