Variant report

Variant	rs2590380
Chromosome Location	chr10:49577910-49577911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10735224	0.87[AFR][1000 genomes]
rs10735225	0.87[AFR][1000 genomes]
rs10776599	0.87[AFR][1000 genomes]
rs1542153	1.00[EUR][1000 genomes]
rs1550774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1881739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1919705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1978998	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2463956	0.86[AFR][1000 genomes]
rs2590379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590388	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590390	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2698769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301111	1.00[EUR][1000 genomes]
rs4141840	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58181014	0.89[AFR][1000 genomes]
rs59377405	1.00[EUR][1000 genomes]
rs60467447	1.00[EUR][1000 genomes]
rs61343950	1.00[EUR][1000 genomes]
rs7072065	1.00[EUR][1000 genomes]
rs7073628	1.00[EUR][1000 genomes]
rs7085678	0.94[AFR][1000 genomes]
rs73293121	1.00[EUR][1000 genomes]
rs73293181	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73293198	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73298383	1.00[EUR][1000 genomes]
rs73300395	1.00[EUR][1000 genomes]
rs74130210	0.83[EUR][1000 genomes]
rs74130216	1.00[EUR][1000 genomes]
rs7894863	0.87[AFR][1000 genomes]
rs7901179	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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49566400-49580000	Weak transcription	Colon Smooth Muscle	Colon
2	chr10:49568600-49582000	Weak transcription	Psoas Muscle	Psoas
3	chr10:49572200-49585600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:49573400-49578600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr10:49573400-49581800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:49573400-49588600	Weak transcription	Primary T cells from cord blood	blood
7	chr10:49573600-49591200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:49574000-49585600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:49574200-49589800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:49574600-49579800	Weak transcription	Fetal Lung	lung
11	chr10:49574600-49589800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:49574600-49589800	Weak transcription	Left Ventricle	heart
13	chr10:49574800-49589800	Weak transcription	A549	lung
14	chr10:49575200-49588000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:49576600-49589800	Weak transcription	Aorta	Aorta
16	chr10:49577000-49578000	Enhancers	Fetal Heart	heart
17	chr10:49577200-49580800	Weak transcription	Lung	lung
18	chr10:49577200-49590000	Weak transcription	Ovary	ovary
19	chr10:49577800-49578000	Enhancers	Right Ventricle	heart

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