Variant report

Variant	rs448018
Chromosome Location	chr3:47404261-47404262
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47403977..47407169-chr3:47419054..47422081,3	K562	blood:
2	chr3:47403119..47404717-chr3:47411186..47413636,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs1038393	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs10865947	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1091068	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130134	0.89[AMR][1000 genomes]
rs11707272	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631697	1.00[EUR][1000 genomes]
rs13077134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13323092	1.00[EUR][1000 genomes]
rs1531874	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1872165	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]
rs28735306	1.00[EUR][1000 genomes]
rs295431	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295432	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295443	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295444	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295445	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs295448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295450	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295451	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295453	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295454	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295455	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295459	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4018904	1.00[EUR][1000 genomes]
rs4858812	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442069	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648226	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	1.00[EUR][1000 genomes]
rs6778673	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6778687	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6783591	1.00[EUR][1000 genomes]
rs6785538	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787210	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6788978	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs7372780	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621853	1.00[AMR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7639121	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7644043	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7644382	1.00[EUR][1000 genomes]
rs7649413	1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807933	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs900688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900689	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900690	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900694	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs9812407	1.00[EUR][1000 genomes]
rs9819475	1.00[EUR][1000 genomes]
rs9823480	1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9827293	1.00[EUR][1000 genomes]
rs9828124	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828289	0.82[AFR][1000 genomes]
rs9828473	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9883152	1.00[EUR][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	esv1807553	chr3:47393616-47470763	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv3802	chr3:47396674-47441951	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47401600-47407400	Weak transcription	Aorta	Aorta
2	chr3:47401600-47421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:47403000-47404400	Enhancers	HepG2	liver
4	chr3:47403200-47404600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:47403600-47404600	Enhancers	Adipose Nuclei	Adipose
6	chr3:47403600-47405000	Enhancers	Primary B cells from cord blood	blood
7	chr3:47403800-47404400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:47403800-47404400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:47403800-47404600	Enhancers	Spleen	Spleen
10	chr3:47403800-47404800	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:47403800-47404800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr3:47403800-47404800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr3:47403800-47404800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:47403800-47404800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:47403800-47404800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:47403800-47404800	Enhancers	Lung	lung
17	chr3:47403800-47405000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr3:47403800-47405000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr3:47403800-47405000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:47403800-47405000	Enhancers	HUVEC	blood vessel
21	chr3:47403800-47405200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr3:47404000-47404400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr3:47404000-47404400	Enhancers	Right Atrium	heart
24	chr3:47404000-47404600	Enhancers	Primary T cells from cord blood	blood
25	chr3:47404000-47404600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr3:47404000-47404600	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:47404000-47404600	Enhancers	GM12878-XiMat	blood
28	chr3:47404000-47404800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr3:47404000-47404800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr3:47404000-47404800	Enhancers	Esophagus	oesophagus
31	chr3:47404000-47404800	Enhancers	Left Ventricle	heart
32	chr3:47404200-47404400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr3:47404200-47404600	Enhancers	NHEK	skin
34	chr3:47404200-47404800	Enhancers	Monocytes-CD14+_RO01746	blood

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