Variant report

Variant	rs73451902
Chromosome Location	chr11:46702744-46702745
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46692927..46695106-chr11:46701903..46703422,2	K562	blood:
2	chr11:46693523..46695360-chr11:46702210..46703940,2	MCF-7	breast:
3	chr11:46684772..46686521-chr11:46700565..46703053,2	K562	blood:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11038924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12099188	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1489190	0.95[AFR][1000 genomes]
rs2864836	0.95[AFR][1000 genomes]
rs3136464	1.00[AMR][1000 genomes]
rs3136477	1.00[AMR][1000 genomes]
rs3136492	1.00[AMR][1000 genomes]
rs34217002	0.95[AFR][1000 genomes]
rs36017347	1.00[AMR][1000 genomes]
rs57328824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57479473	1.00[AMR][1000 genomes]
rs57923752	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58634563	1.00[AMR][1000 genomes]
rs58770070	0.95[AFR][1000 genomes]
rs59488332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59664414	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60026983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60147143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61736849	0.82[AFR][1000 genomes]
rs73449906	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449908	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449920	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449943	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449949	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449974	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449985	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73449986	1.00[AMR][1000 genomes]
rs73450002	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451819	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451822	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451825	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451858	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451860	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451863	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451865	1.00[AMR][1000 genomes]
rs73451868	1.00[AMR][1000 genomes]
rs73451873	1.00[AMR][1000 genomes]
rs73451880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451885	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451887	1.00[AMR][1000 genomes]
rs73451898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454026	1.00[AMR][1000 genomes]
rs73454031	1.00[AMR][1000 genomes]
rs73454037	1.00[AMR][1000 genomes]
rs73454041	1.00[AMR][1000 genomes]
rs73454046	1.00[AMR][1000 genomes]
rs73454052	1.00[AMR][1000 genomes]
rs73454062	1.00[AMR][1000 genomes]
rs73467917	0.95[AFR][1000 genomes]
rs73467919	0.95[AFR][1000 genomes]
rs73467920	0.95[AFR][1000 genomes]
rs73467936	0.95[AFR][1000 genomes]
rs73467938	0.86[AFR][1000 genomes]
rs73467941	0.95[AFR][1000 genomes]
rs73467944	0.95[AFR][1000 genomes]
rs73467947	0.95[AFR][1000 genomes]
rs73467950	0.95[AFR][1000 genomes]
rs73467963	0.95[AFR][1000 genomes]
rs73467964	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46667200-46717000	Strong transcription	Brain Germinal Matrix	brain
2	chr11:46689600-46706200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:46691600-46705600	Weak transcription	Fetal Brain Male	brain
4	chr11:46691600-46709200	Weak transcription	HUVEC	blood vessel
5	chr11:46697200-46705200	Strong transcription	Fetal Brain Female	brain
6	chr11:46697200-46705800	Strong transcription	Thymus	Thymus
7	chr11:46697200-46716000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:46697200-46721200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:46697400-46703800	Strong transcription	Placenta Amnion	Placenta Amnion
10	chr11:46697800-46704200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:46697800-46704800	Weak transcription	Fetal Heart	heart
12	chr11:46697800-46706200	Strong transcription	Rectal Smooth Muscle	rectum
13	chr11:46697800-46709200	Strong transcription	Fetal Stomach	stomach
14	chr11:46698000-46704000	Strong transcription	NHLF	lung
15	chr11:46698000-46708800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:46698000-46708800	Strong transcription	Stomach Smooth Muscle	stomach
17	chr11:46698000-46718600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr11:46698200-46703800	Strong transcription	Aorta	Aorta
19	chr11:46698200-46704400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:46698200-46705600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:46698200-46706000	Strong transcription	Fetal Lung	lung
22	chr11:46698200-46706200	Strong transcription	Dnd41	blood
23	chr11:46698200-46708600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:46698400-46703200	Strong transcription	HSMMtube	muscle
25	chr11:46698400-46703600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:46698400-46703800	Strong transcription	Colon Smooth Muscle	Colon
27	chr11:46698400-46704200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:46698400-46709000	Weak transcription	Fetal Kidney	kidney
29	chr11:46698400-46719400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:46698600-46703000	Strong transcription	NHDF-Ad	bronchial
31	chr11:46698600-46703600	Strong transcription	Ovary	ovary
32	chr11:46698600-46704400	Strong transcription	Small Intestine	intestine
33	chr11:46698600-46704600	Strong transcription	HepG2	liver
34	chr11:46698600-46704800	Strong transcription	HSMM	muscle
35	chr11:46698600-46705000	Strong transcription	Brain Inferior Temporal Lobe	brain
36	chr11:46698600-46705800	Strong transcription	Gastric	stomach
37	chr11:46698600-46706600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:46698800-46703800	Strong transcription	Brain Anterior Caudate	brain
39	chr11:46698800-46704200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:46698800-46705000	Strong transcription	Brain Cingulate Gyrus	brain
41	chr11:46698800-46706200	Strong transcription	Fetal Thymus	thymus
42	chr11:46699000-46704200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr11:46699000-46704800	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:46699000-46704800	Strong transcription	Brain Substantia Nigra	brain
45	chr11:46699000-46704800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:46699000-46705000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr11:46699000-46705000	Weak transcription	Right Atrium	heart
48	chr11:46699000-46706000	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr11:46699000-46706000	Strong transcription	Lung	lung
50	chr11:46699200-46703600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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