Variant report

Variant	rs4488119
Chromosome Location	chr10:50481723-50481724
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	chr10:50481532..50484429-chr10:50560256..50563104,2	K562	blood:
3	chr10:50475395..50477674-chr10:50480122..50481734,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17009659	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17009661	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17009842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2377980	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301681	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301700	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303708	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303713	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303722	0.95[AFR][1000 genomes]
rs73308768	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308770	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50478200-50481800	Enhancers	Left Ventricle	heart
2	chr10:50478200-50482000	Enhancers	Fetal Heart	heart
3	chr10:50478200-50482200	Enhancers	Primary hematopoietic stem cells	blood
4	chr10:50478200-50482400	Enhancers	Fetal Muscle Leg	muscle
5	chr10:50478400-50482000	Enhancers	Fetal Muscle Trunk	muscle
6	chr10:50478600-50483200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr10:50478800-50482000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr10:50479000-50481800	Enhancers	NHDF-Ad	bronchial
9	chr10:50479000-50482000	Enhancers	HSMMtube	muscle
10	chr10:50479200-50483200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:50479800-50482000	Enhancers	Placenta	Placenta
12	chr10:50480000-50482000	Enhancers	Primary B cells from peripheral blood	blood
13	chr10:50480200-50482000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr10:50480200-50482000	Enhancers	Fetal Thymus	thymus
15	chr10:50480400-50481800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr10:50480400-50482000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr10:50480600-50482000	Enhancers	Primary B cells from cord blood	blood
18	chr10:50480800-50481800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr10:50481000-50485600	Weak transcription	K562	blood
20	chr10:50481200-50481800	Enhancers	HSMM	muscle
21	chr10:50481200-50482200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:50481200-50482400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:50481400-50482000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr10:50481400-50483200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:50481400-50486800	Weak transcription	Osteobl	bone
26	chr10:50481600-50483000	Weak transcription	Right Ventricle	heart
27	chr10:50481600-50485800	Weak transcription	Psoas Muscle	Psoas
28	chr10:50481600-50485800	Weak transcription	Right Atrium	heart
29	chr10:50481600-50486800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links