Variant report

Variant	rs12645491
Chromosome Location	chr4:56892349-56892350
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56892290..56896068-chr4:56908749..56911590,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11133419	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11724411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726419	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11731842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732545	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11734217	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11934142	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11937929	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11945709	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12642567	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13121634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127483	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13129197	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290014	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28507080	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28610174	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3214045	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35003282	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35123416	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35814086	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806749	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4499751	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59511278	0.90[ASN][1000 genomes]
rs62308565	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62308614	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62308617	0.90[ASN][1000 genomes]
rs62308621	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6814923	0.90[EUR][1000 genomes]
rs6815354	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6823178	0.90[ASN][1000 genomes]
rs6830668	0.90[EUR][1000 genomes]
rs6849999	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7670026	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9312668	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56816600-56896400	Weak transcription	Fetal Heart	heart
2	chr4:56819000-56897400	Weak transcription	HSMMtube	muscle
3	chr4:56820600-56892400	Weak transcription	Hela-S3	cervix
4	chr4:56823600-56893800	Weak transcription	HMEC	breast
5	chr4:56835400-56904800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:56837200-56905000	Weak transcription	Brain Substantia Nigra	brain
7	chr4:56839800-56896600	Weak transcription	Brain Angular Gyrus	brain
8	chr4:56856200-56892600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:56857600-56897400	Strong transcription	Fetal Thymus	thymus
10	chr4:56857600-56898200	Strong transcription	Dnd41	blood
11	chr4:56857600-56898200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr4:56863200-56892600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:56864600-56894200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:56865400-56894400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:56866200-56895000	Weak transcription	Lung	lung
16	chr4:56866800-56896000	Weak transcription	Small Intestine	intestine
17	chr4:56867000-56895000	Weak transcription	Psoas Muscle	Psoas
18	chr4:56872200-56893200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:56872200-56904800	Weak transcription	HepG2	liver
20	chr4:56873400-56897000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:56876600-56895400	Weak transcription	Brain Anterior Caudate	brain
22	chr4:56879000-56892800	Weak transcription	NHEK	skin
23	chr4:56879200-56893400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:56880000-56897400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:56880400-56897200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:56880600-56898200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:56883600-56897200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:56883800-56893400	Strong transcription	Primary hematopoietic stem cells	blood
29	chr4:56883800-56895800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:56883800-56897000	Strong transcription	Adipose Nuclei	Adipose
31	chr4:56883800-56897600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:56885200-56895200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:56886400-56892800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:56886400-56899600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:56887200-56892800	Weak transcription	NH-A	brain
36	chr4:56887800-56892600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:56887800-56893400	Strong transcription	Ovary	ovary
38	chr4:56887800-56897200	Strong transcription	Thymus	Thymus
39	chr4:56888600-56898600	Weak transcription	Gastric	stomach
40	chr4:56890400-56893800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:56890400-56897000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:56890400-56897200	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr4:56890600-56892400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:56890600-56892400	Strong transcription	Fetal Brain Female	brain
45	chr4:56890600-56892800	Strong transcription	Brain Hippocampus Middle	brain
46	chr4:56890600-56893400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:56890600-56893600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:56890600-56893600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:56890600-56893800	Strong transcription	Placenta	Placenta
50	chr4:56890600-56894000	Strong transcription	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links