Variant report

Variant	rs4683318
Chromosome Location	chr3:47183766-47183767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12486248	0.81[AMR][1000 genomes]
rs12487863	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12490244	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490251	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12492463	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12493723	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495173	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12495438	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17079512	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2291721	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3933020	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4082156	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627772	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4683321	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683323	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58206566	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59601660	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60285825	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7372834	0.81[AMR][1000 genomes]
rs7638049	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47155400-47183800	Weak transcription	Esophagus	oesophagus
2	chr3:47165800-47187000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:47165800-47191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:47165800-47197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:47166000-47200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:47166000-47201200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:47166200-47197200	Weak transcription	Aorta	Aorta
9	chr3:47166200-47200600	Weak transcription	Hela-S3	cervix
10	chr3:47166400-47194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr3:47167400-47202400	Weak transcription	HSMM	muscle
13	chr3:47167800-47187600	Weak transcription	Fetal Stomach	stomach
14	chr3:47167800-47195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:47173600-47191000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:47175800-47200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr3:47176400-47190800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:47176600-47184600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:47177800-47194200	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:47178000-47190800	Weak transcription	Right Ventricle	heart
21	chr3:47178000-47194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:47178600-47187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:47178600-47188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:47178600-47190600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:47180000-47184000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:47180000-47188400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:47180400-47183800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:47180400-47185000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:47180400-47185000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:47180400-47186200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:47180600-47185800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr3:47181000-47193600	Weak transcription	Fetal Heart	heart
33	chr3:47181200-47188200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr3:47181400-47184000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr3:47181600-47184000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:47181600-47184600	Enhancers	Fetal Intestine Large	intestine
37	chr3:47181600-47184800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:47181800-47183800	Enhancers	Liver	Liver
39	chr3:47181800-47184000	Enhancers	Fetal Intestine Small	intestine
40	chr3:47181800-47184800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr3:47181800-47185000	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr3:47182000-47183800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:47182000-47184200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr3:47182000-47184400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr3:47182000-47184800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr3:47182000-47186400	Weak transcription	Fetal Brain Female	brain
47	chr3:47182000-47190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:47182000-47192600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr3:47182000-47195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:47182600-47183800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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