Variant report

Variant	rs61820918
Chromosome Location	chr1:175910532-175910533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12402588	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12403164	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12407451	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12408512	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12411139	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17351760	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17351774	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17354043	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4265393	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4292913	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4497165	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4498761	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55779970	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57729493	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs58539711	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59540069	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59801736	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60630667	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820933	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61820935	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61820936	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61820954	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61820962	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61820963	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61820964	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820966	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820969	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61820971	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61820976	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61821005	0.80[AMR][1000 genomes]
rs61821006	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs61821032	0.82[AFR][1000 genomes]
rs61822765	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61822766	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61822768	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6701833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74127146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74127162	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175874400-175945600	Weak transcription	A549	lung
2	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
3	chr1:175881000-175924200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:175886400-175929400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:175887800-175929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:175889200-175937800	Weak transcription	Osteobl	bone
7	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:175897600-175911000	Weak transcription	Thymus	Thymus
11	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
14	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
15	chr1:175901600-175940600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:175901800-175925800	Weak transcription	HUVEC	blood vessel
17	chr1:175902400-175914800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:175902400-175917800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:175902800-175931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:175903200-175924200	Weak transcription	Gastric	stomach
21	chr1:175903400-175951400	Weak transcription	K562	blood
22	chr1:175903600-175940800	Weak transcription	HMEC	breast
23	chr1:175903800-175915800	Weak transcription	GM12878-XiMat	blood
24	chr1:175904200-175956200	Weak transcription	Psoas Muscle	Psoas
25	chr1:175904400-175911800	Strong transcription	Primary T cells from cord blood	blood
26	chr1:175904600-175953000	Weak transcription	Right Ventricle	heart
27	chr1:175904800-175911800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:175905000-175911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:175905000-175911200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:175905000-175946800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:175905200-175911800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:175905200-175916000	Weak transcription	NHDF-Ad	bronchial
33	chr1:175905400-175918800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:175905600-175911200	Weak transcription	Aorta	Aorta
35	chr1:175905600-175918800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:175906000-175911400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:175906000-175914600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr1:175906000-175915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:175906000-175915600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:175906000-175918200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:175906000-175930000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:175906200-175914800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:175906200-175917000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:175906200-175917600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:175906200-175919000	Weak transcription	Fetal Brain Male	brain
46	chr1:175906400-175914800	Weak transcription	HSMM	muscle
47	chr1:175906400-175920800	Weak transcription	HepG2	liver
48	chr1:175906400-175940600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:175906400-175944800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:175906400-175952400	Weak transcription	Spleen	Spleen

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