Variant report

Variant	rs2314992
Chromosome Location	chr3:69362722-69362723
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10865648	0.91[ASN][1000 genomes]
rs11707515	0.84[AMR][1000 genomes]
rs12492029	0.90[ASN][1000 genomes]
rs12492475	0.91[ASN][1000 genomes]
rs1483895	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17005615	0.90[ASN][1000 genomes]
rs1872152	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2314990	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55728052	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119799	0.91[ASN][1000 genomes]
rs6549198	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66686363	0.91[ASN][1000 genomes]
rs67846536	0.90[ASN][1000 genomes]
rs67940491	0.91[ASN][1000 genomes]
rs7627492	0.98[ASN][1000 genomes]
rs7647743	0.91[ASN][1000 genomes]
rs7649373	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833304	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9867480	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69344000-69370000	Weak transcription	Fetal Brain Male	brain
2	chr3:69344000-69370000	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:69348000-69369400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:69349200-69368800	Weak transcription	Fetal Brain Female	brain
5	chr3:69350000-69374200	Weak transcription	Aorta	Aorta
6	chr3:69356000-69373200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:69356200-69368800	Weak transcription	Fetal Heart	heart
8	chr3:69356200-69369800	Weak transcription	Fetal Lung	lung
9	chr3:69356400-69371000	Weak transcription	Placenta	Placenta
10	chr3:69356400-69372000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:69356800-69362800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:69356800-69362800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:69357200-69362800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:69357600-69366400	Weak transcription	Brain Angular Gyrus	brain
15	chr3:69357800-69362800	Strong transcription	HUVEC	blood vessel
16	chr3:69357800-69370000	Weak transcription	Spleen	Spleen
17	chr3:69358200-69370000	Weak transcription	Fetal Thymus	thymus
18	chr3:69358600-69369600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr3:69359200-69362800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:69359400-69370000	Weak transcription	Thymus	Thymus
21	chr3:69359800-69363600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:69360200-69363600	Weak transcription	Brain Substantia Nigra	brain
23	chr3:69360600-69382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:69360800-69372000	Weak transcription	HSMM	muscle
25	chr3:69361200-69362800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr3:69361200-69362800	Strong transcription	Lung	lung
27	chr3:69361400-69372000	Weak transcription	HMEC	breast
28	chr3:69361800-69366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:69362000-69362800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:69362000-69363000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr3:69362200-69362800	Strong transcription	Brain Anterior Caudate	brain
32	chr3:69362200-69362800	Enhancers	Brain Hippocampus Middle	brain
33	chr3:69362200-69362800	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr3:69362200-69362800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr3:69362200-69362800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr3:69362200-69363000	Strong transcription	NHEK	skin
37	chr3:69362600-69369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:69362600-69370800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:69362600-69373200	Weak transcription	Dnd41	blood

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