Variant report

Variant	rs56672176
Chromosome Location	chr12:45583486-45583487
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45583296..45585213-chr12:45587599..45589983,2	K562	blood:
2	chr12:45566834..45570854-chr12:45581275..45584905,3	K562	blood:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs17095452	0.82[AFR][1000 genomes]
rs55994528	0.90[AFR][1000 genomes]
rs56409009	0.86[AFR][1000 genomes]
rs56842412	0.86[AFR][1000 genomes]
rs57283482	0.90[AFR][1000 genomes]
rs57514011	0.90[AFR][1000 genomes]
rs57516582	0.90[AFR][1000 genomes]
rs57590365	0.90[AFR][1000 genomes]
rs57752448	0.82[AFR][1000 genomes]
rs58025806	0.90[AFR][1000 genomes]
rs58379974	0.86[AFR][1000 genomes]
rs58615264	0.90[AFR][1000 genomes]
rs58938625	0.90[AFR][1000 genomes]
rs58992779	0.90[AFR][1000 genomes]
rs59111701	0.90[AFR][1000 genomes]
rs59344692	0.90[AFR][1000 genomes]
rs59579391	0.86[AFR][1000 genomes]
rs60098273	0.82[AFR][1000 genomes]
rs60717004	0.90[AFR][1000 genomes]
rs61226604	0.86[AFR][1000 genomes]
rs61679354	0.90[AFR][1000 genomes]
rs74080326	0.82[AFR][1000 genomes]
rs74080682	0.90[AFR][1000 genomes]
rs74080929	0.86[AFR][1000 genomes]
rs74080930	0.86[AFR][1000 genomes]
rs74080931	0.90[AFR][1000 genomes]
rs74080935	0.90[AFR][1000 genomes]
rs74080976	0.90[AFR][1000 genomes]
rs74080979	0.90[AFR][1000 genomes]
rs74080982	0.90[AFR][1000 genomes]
rs74080983	0.90[AFR][1000 genomes]
rs74080985	0.90[AFR][1000 genomes]
rs74080987	0.90[AFR][1000 genomes]
rs74080989	0.90[AFR][1000 genomes]
rs74080993	0.90[AFR][1000 genomes]
rs74080995	0.90[AFR][1000 genomes]
rs74080997	0.90[AFR][1000 genomes]
rs74083221	0.90[AFR][1000 genomes]
rs74083224	0.90[AFR][1000 genomes]
rs74083303	0.86[AFR][1000 genomes]
rs74083306	0.86[AFR][1000 genomes]
rs74083321	0.90[AFR][1000 genomes]
rs74083322	0.90[AFR][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45565400-45586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:45565600-45585000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:45570000-45593200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:45571000-45594600	Weak transcription	Pancreas	Pancrea
5	chr12:45571600-45586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:45573200-45586000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:45573200-45587200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:45573400-45585000	Weak transcription	NHEK	skin
9	chr12:45573400-45594600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:45573600-45593600	Weak transcription	Fetal Thymus	thymus
11	chr12:45574000-45586200	Weak transcription	Dnd41	blood
12	chr12:45574200-45584200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:45574200-45586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:45574600-45586000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:45575600-45584400	Weak transcription	Left Ventricle	heart
16	chr12:45576600-45585800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:45577600-45584400	Weak transcription	A549	lung
18	chr12:45577600-45584600	Weak transcription	Fetal Stomach	stomach
19	chr12:45578600-45585000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:45578600-45585800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:45578600-45585800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:45578600-45586000	Weak transcription	K562	blood
23	chr12:45578600-45594000	Weak transcription	Thymus	Thymus
24	chr12:45578600-45594600	Weak transcription	Psoas Muscle	Psoas
25	chr12:45579400-45599200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:45579800-45586000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:45580000-45585800	Weak transcription	Fetal Intestine Large	intestine
28	chr12:45580200-45593800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:45581800-45586000	Weak transcription	Fetal Heart	heart
30	chr12:45582000-45586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:45582200-45583600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr12:45582200-45591200	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:45582400-45583600	Enhancers	HepG2	liver
34	chr12:45582400-45593600	Weak transcription	Primary T cells from cord blood	blood
35	chr12:45582600-45585000	Weak transcription	Small Intestine	intestine
36	chr12:45582600-45586000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:45582800-45586800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:45583000-45583600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:45583000-45585800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr12:45583200-45583600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:45583200-45586200	Enhancers	Primary neutrophils fromperipheralblood	blood

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