Variant report

Variant	rs58482452
Chromosome Location	chr1:213182250-213182251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213181670..213183610-chr1:213239106..213241816,2	K562	blood:
2	chr1:213180453..213182672-chr1:213253594..213256441,2	K562	blood:
3	chr1:213175599..213177559-chr1:213181937..213184219,2	K562	blood:
4	chr1:213180724..213183170-chr1:213240316..213242506,2	K562	blood:
5	chr1:213164117..213166257-chr1:213181504..213183921,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs12065249	0.95[ASN][1000 genomes]
rs17742003	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs41277160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41277162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57140665	1.00[AFR][1000 genomes]
rs57188196	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57352598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57376645	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs57845296	1.00[AFR][1000 genomes]
rs58711222	0.93[EUR][1000 genomes]
rs58865439	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59489266	0.88[EUR][1000 genomes]
rs59635750	0.93[EUR][1000 genomes]
rs59892045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60194877	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60415266	0.93[EUR][1000 genomes]
rs60727621	1.00[AFR][1000 genomes]
rs61385792	0.93[EUR][1000 genomes]
rs61832445	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832446	1.00[AFR][1000 genomes]
rs61832447	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61832460	1.00[AFR][1000 genomes]
rs61832461	1.00[AFR][1000 genomes]
rs61832463	1.00[AFR][1000 genomes]
rs61832465	1.00[AFR][1000 genomes]
rs61832467	1.00[AFR][1000 genomes]
rs61832468	1.00[AFR][1000 genomes]
rs61832470	1.00[AFR][1000 genomes]
rs61832471	1.00[AFR][1000 genomes]
rs61832474	1.00[AFR][1000 genomes]
rs61832475	1.00[AFR][1000 genomes]
rs61832476	1.00[AFR][1000 genomes]
rs61834072	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834076	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834077	1.00[AFR][1000 genomes]
rs61834080	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834082	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834083	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834084	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834086	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834087	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834088	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834089	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834091	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61834092	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs61834093	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834094	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834096	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834099	1.00[ASN][1000 genomes]
rs61834102	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834103	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61834104	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61834105	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61834109	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61834110	1.00[AFR][1000 genomes]
rs61834111	1.00[AFR][1000 genomes]
rs61834117	1.00[AFR][1000 genomes]
rs61834119	1.00[AFR][1000 genomes]
rs61834123	1.00[AFR][1000 genomes]
rs61834126	1.00[AFR][1000 genomes]
rs61834135	1.00[AFR][1000 genomes]
rs61834136	1.00[AFR][1000 genomes]
rs61834137	1.00[AFR][1000 genomes]
rs61834139	1.00[AFR][1000 genomes]
rs61834140	1.00[AFR][1000 genomes]
rs61834141	1.00[AFR][1000 genomes]
rs61834142	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213154600-213187400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:213154800-213188000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:213154800-213188400	Weak transcription	Spleen	Spleen
4	chr1:213155600-213188000	Weak transcription	Aorta	Aorta
5	chr1:213155600-213188000	Weak transcription	Esophagus	oesophagus
6	chr1:213156200-213187400	Weak transcription	Fetal Brain Male	brain
7	chr1:213156200-213188000	Weak transcription	Pancreas	Pancrea
8	chr1:213158400-213188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:213160200-213188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:213160400-213187200	Weak transcription	NHLF	lung
11	chr1:213162000-213184600	Weak transcription	Psoas Muscle	Psoas
12	chr1:213162200-213188000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:213162800-213183000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr1:213163200-213187400	Weak transcription	Stomach Mucosa	stomach
15	chr1:213166000-213184200	Weak transcription	HepG2	liver
16	chr1:213167600-213182600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:213167800-213187000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:213167800-213187000	Weak transcription	Fetal Heart	heart
19	chr1:213167800-213187800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:213168600-213183000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:213169000-213182600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:213169000-213186800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:213169000-213187200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:213169000-213187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:213169800-213186400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:213170000-213188000	Weak transcription	Colonic Mucosa	Colon
27	chr1:213170600-213187800	Weak transcription	Fetal Kidney	kidney
28	chr1:213172600-213182800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:213172800-213182600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:213173000-213182400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:213173000-213183000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:213173000-213183400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:213173000-213186800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:213173000-213187000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:213173200-213183000	Strong transcription	Dnd41	blood
36	chr1:213174800-213182600	Strong transcription	Adipose Nuclei	Adipose
37	chr1:213175000-213182800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:213175200-213182600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:213175600-213182400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:213176400-213182600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:213176800-213182400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:213176800-213182800	Strong transcription	A549	lung
43	chr1:213177200-213187200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:213177400-213182400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:213177400-213182600	Strong transcription	Left Ventricle	heart
46	chr1:213177400-213187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:213177400-213188000	Weak transcription	Lung	lung
48	chr1:213178200-213182400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:213178200-213182400	Strong transcription	Placenta	Placenta
50	chr1:213178200-213182600	Strong transcription	Rectal Mucosa Donor 31	rectum

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