Variant report

Variant	rs900692
Chromosome Location	chr3:47484126-47484127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs1038393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs10865947	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1091068	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130134	0.89[AMR][1000 genomes]
rs11707272	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631697	1.00[EUR][1000 genomes]
rs13077134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs1531874	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1872165	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2170814	0.87[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs295431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295432	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295443	1.00[EUR][1000 genomes]
rs295444	1.00[EUR][1000 genomes]
rs295445	1.00[EUR][1000 genomes]
rs295448	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295450	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295451	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295453	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295454	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295455	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295459	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs448018	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858812	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858823	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858834	0.89[AMR][1000 genomes]
rs4858855	0.87[AMR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6442066	1.00[EUR][1000 genomes]
rs6442068	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442069	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648226	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	1.00[EUR][1000 genomes]
rs6778673	1.00[EUR][1000 genomes]
rs6778687	1.00[EUR][1000 genomes]
rs6783591	1.00[EUR][1000 genomes]
rs6785538	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787210	1.00[EUR][1000 genomes]
rs6788978	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789730	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs7372780	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621853	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7639121	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7644043	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7649413	1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807933	1.00[EUR][1000 genomes]
rs900688	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900689	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900690	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900694	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs9828124	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47450400-47484800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:47463000-47485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:47463400-47484600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:47463600-47484800	Strong transcription	Primary T cells from cord blood	blood
5	chr3:47464000-47484200	Weak transcription	Right Atrium	heart
6	chr3:47465400-47484600	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr3:47465600-47484200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr3:47469200-47484400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:47471800-47485000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:47472000-47484600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:47472400-47484600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:47472400-47485200	Weak transcription	Fetal Brain Male	brain
13	chr3:47472800-47484400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:47473200-47487200	Weak transcription	HUVEC	blood vessel
15	chr3:47474600-47489600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:47475000-47484600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:47476000-47484200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:47476000-47484200	Weak transcription	Colonic Mucosa	Colon
19	chr3:47476000-47485800	Weak transcription	Fetal Kidney	kidney
20	chr3:47476600-47484200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:47476600-47484200	Weak transcription	Small Intestine	intestine
22	chr3:47476600-47484400	Weak transcription	Aorta	Aorta
23	chr3:47476600-47485400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:47476600-47514200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:47476800-47484800	Weak transcription	NH-A	brain
26	chr3:47478200-47484600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:47478200-47485000	Strong transcription	Dnd41	blood
28	chr3:47478400-47484800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:47479000-47484600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr3:47479200-47484600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:47479400-47484600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr3:47479400-47484600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr3:47479400-47484600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:47479400-47484600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr3:47479400-47484800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr3:47479600-47485800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:47479800-47484600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:47480000-47484400	Strong transcription	Fetal Stomach	stomach
39	chr3:47480200-47484600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:47480200-47484600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:47480400-47485200	Strong transcription	K562	blood
42	chr3:47480600-47484200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:47480800-47484200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr3:47480800-47484200	Strong transcription	Lung	lung
45	chr3:47480800-47484400	Strong transcription	Brain Germinal Matrix	brain
46	chr3:47480800-47484800	Strong transcription	Thymus	Thymus
47	chr3:47481000-47485000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr3:47481200-47484400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr3:47481400-47496000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:47481400-47500600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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