Variant report

Variant	rs59344692
Chromosome Location	chr12:45586413-45586414
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs17095452	0.91[AFR][1000 genomes]
rs55994528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162044	1.00[AMR][1000 genomes]
rs56409009	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56672176	0.90[AFR][1000 genomes]
rs56842412	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57283482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57514011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57516582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57590365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57752448	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58025806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58379974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58615264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58938625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59111701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59579391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60098273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61226604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61679354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080326	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080682	0.90[AFR][1000 genomes]
rs74080804	1.00[AMR][1000 genomes]
rs74080853	0.90[AFR][1000 genomes]
rs74080929	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74080997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083403	0.86[AFR][1000 genomes]
rs74083404	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74083405	0.87[AFR][1000 genomes];1.00[AMR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45570000-45593200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:45571000-45594600	Weak transcription	Pancreas	Pancrea
3	chr12:45573200-45587200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:45573400-45594600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:45573600-45593600	Weak transcription	Fetal Thymus	thymus
6	chr12:45578600-45594000	Weak transcription	Thymus	Thymus
7	chr12:45578600-45594600	Weak transcription	Psoas Muscle	Psoas
8	chr12:45579400-45599200	Weak transcription	Primary B cells from cord blood	blood
9	chr12:45580200-45593800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:45582200-45591200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:45582400-45593600	Weak transcription	Primary T cells from cord blood	blood
12	chr12:45582800-45586800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:45583800-45586800	Weak transcription	Right Ventricle	heart
14	chr12:45584400-45586800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:45584600-45586600	Enhancers	Hela-S3	cervix
16	chr12:45584600-45586800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:45584600-45587800	Enhancers	HepG2	liver
18	chr12:45584800-45586600	Enhancers	HSMMtube	muscle
19	chr12:45584800-45586800	Enhancers	HMEC	breast
20	chr12:45584800-45586800	Enhancers	HUVEC	blood vessel
21	chr12:45584800-45594400	Weak transcription	Aorta	Aorta
22	chr12:45585000-45586600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:45585000-45586600	Enhancers	NHEK	skin
24	chr12:45585000-45587200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:45585200-45593800	Weak transcription	Small Intestine	intestine
26	chr12:45585400-45586800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:45585600-45586600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:45585800-45586600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:45585800-45586600	Enhancers	Placenta	Placenta
30	chr12:45585800-45586800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr12:45585800-45586800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:45585800-45586800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:45585800-45586800	Flanking Active TSS	A549	lung
34	chr12:45585800-45586800	Enhancers	Osteobl	bone
35	chr12:45585800-45587400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:45585800-45588000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:45586000-45586600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr12:45586000-45586600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:45586000-45586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:45586000-45586600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:45586000-45586600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:45586000-45586600	Enhancers	K562	blood
43	chr12:45586000-45586600	Enhancers	NHLF	lung
44	chr12:45586000-45586800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:45586000-45586800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:45586000-45586800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:45586000-45587000	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:45586000-45587200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:45586000-45587200	Enhancers	Fetal Intestine Small	intestine
50	chr12:45586000-45588400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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