Variant report

Variant	rs73411098
Chromosome Location	chr12:123563483-123563484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11061578	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12229712	0.80[AFR][1000 genomes]
rs55796417	0.83[AFR][1000 genomes]
rs55830208	0.83[AFR][1000 genomes]
rs55992397	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56020503	0.83[AFR][1000 genomes]
rs56140750	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56150478	0.81[AFR][1000 genomes]
rs56725866	0.83[AFR][1000 genomes]
rs57106451	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57178349	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57641050	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57719471	0.85[AMR][1000 genomes]
rs57764857	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57794792	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59615440	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59881907	0.85[AMR][1000 genomes]
rs60341839	0.83[AFR][1000 genomes]
rs60341983	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60358140	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60546720	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60761837	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60809882	0.83[AFR][1000 genomes]
rs61377358	0.83[AFR][1000 genomes]
rs61516893	0.83[AFR][1000 genomes]
rs7302112	0.85[AMR][1000 genomes]
rs73411057	0.83[AFR][1000 genomes]
rs73411058	0.83[AFR][1000 genomes]
rs73411063	0.83[AFR][1000 genomes]
rs73411076	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411084	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411087	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411088	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411090	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411093	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413226	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413228	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413230	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413236	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413241	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413246	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413263	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413265	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73413270	0.85[AMR][1000 genomes]
rs752164	0.83[AFR][1000 genomes]
rs7952760	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7964036	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123542800-123563800	Enhancers	Left Ventricle	heart
2	chr12:123553800-123563800	Enhancers	Right Ventricle	heart
3	chr12:123554000-123563800	Enhancers	Brain Hippocampus Middle	brain
4	chr12:123557400-123565600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:123558400-123563800	Enhancers	Lung	lung
6	chr12:123560200-123563800	Enhancers	Spleen	Spleen
7	chr12:123560200-123570400	Weak transcription	Aorta	Aorta
8	chr12:123560600-123574200	Weak transcription	Gastric	stomach
9	chr12:123560800-123563600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:123560800-123568000	Weak transcription	Colonic Mucosa	Colon
11	chr12:123561000-123578800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:123561400-123563800	Enhancers	Brain Angular Gyrus	brain
14	chr12:123561400-123563800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr12:123561400-123568400	Weak transcription	HSMMtube	muscle
16	chr12:123561600-123563600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr12:123561600-123566400	Weak transcription	HMEC	breast
18	chr12:123561600-123566600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:123561600-123568200	Weak transcription	NHEK	skin
20	chr12:123561600-123569800	Weak transcription	HSMM	muscle
21	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
22	chr12:123561800-123565000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr12:123561800-123565400	Weak transcription	Primary B cells from cord blood	blood
24	chr12:123561800-123566400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:123561800-123566600	Weak transcription	Hela-S3	cervix
26	chr12:123561800-123568000	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr12:123562000-123563800	Transcr. at gene 5' and 3'	Thymus	Thymus
28	chr12:123562000-123568000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:123562000-123568400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:123562000-123568800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:123562000-123569000	Weak transcription	HepG2	liver
32	chr12:123562000-123569400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:123562000-123576200	Weak transcription	Primary T cells from cord blood	blood
34	chr12:123562200-123563600	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:123562200-123566400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:123562200-123567400	Weak transcription	A549	lung
37	chr12:123562200-123568200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:123562200-123572600	Weak transcription	K562	blood
39	chr12:123562400-123563600	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:123562400-123563600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:123562400-123564800	Enhancers	Fetal Brain Male	brain
42	chr12:123562400-123565000	Weak transcription	Fetal Heart	heart
43	chr12:123562400-123567200	Weak transcription	Liver	Liver
44	chr12:123562400-123568400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:123562400-123586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr12:123562600-123563800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr12:123562600-123567200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:123562600-123568200	Weak transcription	Placenta	Placenta
49	chr12:123562600-123568400	Weak transcription	Brain Substantia Nigra	brain
50	chr12:123562800-123563800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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