Variant report

Variant	rs72785012
Chromosome Location	chr16:69878872-69878873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69874565..69877558-chr16:69877782..69880271,3	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11863900	1.00[ASN][1000 genomes]
rs1437137	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17231474	1.00[ASN][1000 genomes]
rs17298718	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17300801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444781	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45564335	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55635123	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897481	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921818	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56000913	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56127339	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56171157	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56180453	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56186702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56221028	1.00[ASN][1000 genomes]
rs56369384	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56377800	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58722949	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499238	1.00[ASN][1000 genomes]
rs689453	1.00[ASN][1000 genomes]
rs689454	1.00[ASN][1000 genomes]
rs689461	1.00[ASN][1000 genomes]
rs7191376	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203292	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204326	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783105	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783116	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783117	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783118	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783119	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783121	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783128	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72783158	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783160	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783163	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783165	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783174	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783183	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783184	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783189	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783198	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785009	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785020	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785024	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785026	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785029	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785033	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785034	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785038	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785045	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785047	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785048	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785052	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785055	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785058	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785059	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785064	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785065	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785073	1.00[ASN][1000 genomes]
rs72801337	1.00[ASN][1000 genomes]
rs72801338	1.00[ASN][1000 genomes]
rs72801339	1.00[ASN][1000 genomes]
rs72801344	1.00[ASN][1000 genomes]
rs72801347	1.00[ASN][1000 genomes]
rs72801350	1.00[ASN][1000 genomes]
rs72801352	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72801354	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8055148	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8062809	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935643	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906823	chr16:69711533-69959223	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69834000-69910600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:69834200-69892200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr16:69837000-69905600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr16:69852000-69893200	Weak transcription	K562	blood
5	chr16:69853400-69880000	Weak transcription	Hela-S3	cervix
6	chr16:69865000-69887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:69865200-69879000	Weak transcription	NHLF	lung
8	chr16:69865600-69881600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:69867000-69888400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr16:69867400-69881800	Weak transcription	NHDF-Ad	bronchial
11	chr16:69867800-69879000	Weak transcription	Osteobl	bone
12	chr16:69867800-69881800	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:69868000-69881800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:69868000-69885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:69868000-69888800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:69868200-69880600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:69868200-69881800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr16:69868200-69884800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:69868200-69885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:69868200-69892800	Weak transcription	A549	lung
21	chr16:69868600-69879600	Strong transcription	Primary B cells from cord blood	blood
22	chr16:69868800-69888400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr16:69869000-69879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:69871000-69879600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:69871200-69884600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr16:69871200-69885000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr16:69871400-69879400	Strong transcription	Thymus	Thymus
28	chr16:69871400-69880200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr16:69871400-69883200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:69871600-69882800	Strong transcription	Primary T cells from cord blood	blood
31	chr16:69873000-69879600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr16:69873200-69879200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr16:69873200-69879600	Strong transcription	Placenta	Placenta
34	chr16:69873400-69888000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:69873800-69879600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:69874000-69879600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:69874000-69882400	Weak transcription	NH-A	brain
38	chr16:69874000-69883000	Weak transcription	HMEC	breast
39	chr16:69874000-69905800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:69874200-69879400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:69874200-69882000	Weak transcription	Fetal Lung	lung
42	chr16:69874200-69889400	Weak transcription	Right Ventricle	heart
43	chr16:69874400-69879200	Strong transcription	Adipose Nuclei	Adipose
44	chr16:69874400-69881600	Weak transcription	Psoas Muscle	Psoas
45	chr16:69874400-69881600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr16:69874600-69880600	Strong transcription	Fetal Stomach	stomach
47	chr16:69874600-69881800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:69874600-69882000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr16:69874800-69879600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr16:69874800-69887200	Weak transcription	Aorta	Aorta

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