Variant report

Variant	rs4483512
Chromosome Location	chr10:50480390-50480391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50476174..50479892-chr10:50480036..50482768,4	K562	blood:
2	chr10:50478467..50480790-chr10:50505302..50507666,2	K562	blood:
3	chr10:50475395..50477674-chr10:50480122..50481734,2	K562	blood:

Variant related genes	Relation type
ENSG00000177354	Chromatin interaction
ENSG00000236208	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10732630	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10732631	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735220	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10735221	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745257	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10776550	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10776551	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10776553	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776555	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10857454	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857455	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857456	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857458	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10857460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10857480	0.80[CEU][hapmap]
rs11101075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101076	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11101085	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs11101086	0.83[EUR][1000 genomes]
rs1122560	0.80[ASN][1000 genomes]
rs12220898	0.80[CEU][hapmap]
rs12254955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12571437	0.82[AMR][1000 genomes]
rs17009669	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009755	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009880	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009886	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2377975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377976	1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2377977	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2377978	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2377979	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2889806	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3996894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3996895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4297382	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4310533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4478905	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4582889	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4600130	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838376	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838377	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4838479	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838480	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838481	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838482	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55892993	0.83[EUR][1000 genomes]
rs56165245	0.83[EUR][1000 genomes]
rs56203859	0.83[EUR][1000 genomes]
rs56387457	0.90[EUR][1000 genomes]
rs61519033	0.83[EUR][1000 genomes]
rs6537519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537520	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7068959	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7074999	0.80[CEU][hapmap]
rs7082585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7085410	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7098191	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73308728	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73308730	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73308731	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7905866	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911371	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913851	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912467	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895376	chr10:50480164-50557211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50470800-50480800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:50477800-50480400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:50478000-50480600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:50478200-50481800	Enhancers	Left Ventricle	heart
5	chr10:50478200-50482000	Enhancers	Fetal Heart	heart
6	chr10:50478200-50482200	Enhancers	Primary hematopoietic stem cells	blood
7	chr10:50478200-50482400	Enhancers	Fetal Muscle Leg	muscle
8	chr10:50478400-50482000	Enhancers	Fetal Muscle Trunk	muscle
9	chr10:50478600-50481600	Enhancers	Psoas Muscle	Psoas
10	chr10:50478600-50481600	Enhancers	Right Ventricle	heart
11	chr10:50478600-50481600	Enhancers	Spleen	Spleen
12	chr10:50478600-50483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr10:50478800-50481600	Enhancers	Right Atrium	heart
14	chr10:50478800-50482000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr10:50479000-50481800	Enhancers	NHDF-Ad	bronchial
16	chr10:50479000-50482000	Enhancers	HSMMtube	muscle
17	chr10:50479200-50481600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:50479200-50483200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:50479400-50481000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:50479600-50480400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr10:50479600-50481200	Enhancers	NHLF	lung
22	chr10:50479800-50480600	Enhancers	Osteobl	bone
23	chr10:50479800-50481000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr10:50479800-50481600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:50479800-50482000	Enhancers	Placenta	Placenta
26	chr10:50480000-50480800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr10:50480000-50481000	Enhancers	K562	blood
28	chr10:50480000-50481600	Enhancers	Adipose Nuclei	Adipose
29	chr10:50480000-50482000	Enhancers	Primary B cells from peripheral blood	blood
30	chr10:50480200-50480600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:50480200-50480600	Enhancers	HSMM	muscle
32	chr10:50480200-50480800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:50480200-50481000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr10:50480200-50481200	Enhancers	Lung	lung
35	chr10:50480200-50481400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:50480200-50481400	Enhancers	Stomach Smooth Muscle	stomach
37	chr10:50480200-50482000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:50480200-50482000	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links