Variant report

Variant	rs72906425
Chromosome Location	chr2:54902994-54902995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54342492..54344341-chr2:54902621..54905084,2	MCF-7	breast:
2	chr2:54902287..54904754-chr2:54917097..54919271,2	K562	blood:
3	chr2:54891342..54894033-chr2:54900112..54903106,2	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11888386	1.00[EUR][1000 genomes]
rs1549839	1.00[EUR][1000 genomes]
rs17046281	1.00[EUR][1000 genomes]
rs57381328	1.00[EUR][1000 genomes]
rs57623434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57749522	1.00[EUR][1000 genomes]
rs58833605	1.00[EUR][1000 genomes]
rs58920119	1.00[EUR][1000 genomes]
rs58937764	1.00[AMR][1000 genomes]
rs59039394	1.00[EUR][1000 genomes]
rs59755359	1.00[EUR][1000 genomes]
rs60282658	1.00[EUR][1000 genomes]
rs60410507	1.00[EUR][1000 genomes]
rs60853661	1.00[EUR][1000 genomes]
rs6705313	1.00[EUR][1000 genomes]
rs6714663	1.00[EUR][1000 genomes]
rs6740557	1.00[EUR][1000 genomes]
rs6743161	1.00[EUR][1000 genomes]
rs6751570	1.00[EUR][1000 genomes]
rs72906405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906407	1.00[EUR][1000 genomes]
rs72906419	1.00[EUR][1000 genomes]
rs72906421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72906426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911566	1.00[EUR][1000 genomes]
rs72911570	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911573	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913543	1.00[EUR][1000 genomes]
rs72913547	1.00[EUR][1000 genomes]
rs72913549	1.00[EUR][1000 genomes]
rs72913551	1.00[EUR][1000 genomes]
rs72915026	1.00[AMR][1000 genomes]
rs72915537	1.00[EUR][1000 genomes]
rs72915543	1.00[EUR][1000 genomes]
rs72915544	1.00[EUR][1000 genomes]
rs72915554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915563	1.00[EUR][1000 genomes]
rs72915572	1.00[EUR][1000 genomes]
rs72915587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915590	1.00[EUR][1000 genomes]
rs72917518	1.00[EUR][1000 genomes]
rs72917541	1.00[EUR][1000 genomes]
rs72917550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917594	1.00[AMR][1000 genomes]
rs72918782	1.00[EUR][1000 genomes]
rs72918788	1.00[EUR][1000 genomes]
rs72919507	1.00[EUR][1000 genomes]
rs72920524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72920550	1.00[EUR][1000 genomes]
rs72920563	1.00[EUR][1000 genomes]
rs72920570	1.00[AMR][1000 genomes]
rs72920576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7572839	1.00[EUR][1000 genomes]
rs7580158	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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54897000-54903800	Weak transcription	Brain Germinal Matrix	brain
2	chr2:54897200-54907800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:54898200-54907000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:54898400-54904600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:54898600-54903400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:54898600-54907800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:54899200-54903400	Enhancers	Pancreas	Pancrea
8	chr2:54899200-54903400	Enhancers	Spleen	Spleen
9	chr2:54899600-54903000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:54899600-54903200	Weak transcription	NH-A	brain
11	chr2:54899800-54903000	Weak transcription	HSMM	muscle
12	chr2:54900000-54908600	Enhancers	NHDF-Ad	bronchial
13	chr2:54900400-54904000	Enhancers	Lung	lung
14	chr2:54901000-54903000	Weak transcription	NHLF	lung
15	chr2:54901000-54904000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:54901000-54907000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:54901000-54907800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:54901200-54903000	Enhancers	Placenta	Placenta
19	chr2:54901200-54903000	Weak transcription	HSMMtube	muscle
20	chr2:54901200-54903400	Weak transcription	A549	lung
21	chr2:54901200-54904200	Weak transcription	Fetal Stomach	stomach
22	chr2:54901200-54904600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr2:54901200-54907800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:54901400-54903400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:54901400-54903600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:54901400-54905000	Weak transcription	Primary B cells from cord blood	blood
27	chr2:54901400-54907600	Weak transcription	HMEC	breast
28	chr2:54901400-54908600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:54901600-54903600	Enhancers	Right Ventricle	heart
30	chr2:54901800-54903200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:54901800-54907800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:54902000-54903000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:54902000-54903200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:54902000-54903200	Weak transcription	HepG2	liver
35	chr2:54902000-54903400	Enhancers	Fetal Muscle Leg	muscle
36	chr2:54902000-54903600	Weak transcription	GM12878-XiMat	blood
37	chr2:54902000-54906000	Enhancers	Osteobl	bone
38	chr2:54902000-54907000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:54902000-54907000	Weak transcription	Brain Anterior Caudate	brain
40	chr2:54902200-54903000	Enhancers	Psoas Muscle	Psoas
41	chr2:54902200-54903000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr2:54902200-54907800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:54902400-54903400	Enhancers	Liver	Liver
44	chr2:54902400-54903400	Enhancers	Right Atrium	heart
45	chr2:54902400-54907000	Weak transcription	Brain Substantia Nigra	brain
46	chr2:54902600-54903200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr2:54902600-54903800	Weak transcription	Fetal Thymus	thymus
48	chr2:54902600-54904200	Enhancers	Fetal Heart	heart
49	chr2:54902600-54907600	Weak transcription	Brain Hippocampus Middle	brain
50	chr2:54902800-54903000	Enhancers	Aorta	Aorta

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