Variant report

Variant	rs9990284
Chromosome Location	chr3:47101818-47101819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 178 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:172)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs10461017	0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10461019	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs11130108	0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130109	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11706212	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11708257	1.00[ASW][hapmap];0.88[LWK][hapmap];0.90[MKK][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709693	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709876	1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713537	1.00[MEX][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12330516	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12487763	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12631730	0.88[LWK][hapmap];1.00[YRI][hapmap]
rs13062185	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13079416	1.00[EUR][1000 genomes]
rs13082531	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13323092	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1378818	0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1463394	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466272	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1466273	1.00[EUR][1000 genomes]
rs1473382	1.00[EUR][1000 genomes]
rs1473384	1.00[EUR][1000 genomes]
rs1473385	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1563431	1.00[EUR][1000 genomes]
rs1563432	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1814564	1.00[EUR][1000 genomes]
rs1869870	0.94[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2124509	0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2124510	0.87[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs2385863	1.00[EUR][1000 genomes]
rs2385868	1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385869	0.95[YRI][hapmap];0.87[AMR][1000 genomes]
rs28735306	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2891887	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2891893	0.86[YRI][hapmap]
rs295431	1.00[EUR][1000 genomes]
rs295432	1.00[EUR][1000 genomes]
rs295434	1.00[EUR][1000 genomes]
rs295443	1.00[EUR][1000 genomes]
rs295444	1.00[EUR][1000 genomes]
rs295445	1.00[EUR][1000 genomes]
rs295448	1.00[EUR][1000 genomes]
rs295450	1.00[EUR][1000 genomes]
rs295451	1.00[EUR][1000 genomes]
rs295453	1.00[EUR][1000 genomes]
rs295454	1.00[EUR][1000 genomes]
rs295455	1.00[EUR][1000 genomes]
rs295456	1.00[EUR][1000 genomes]
rs295457	1.00[EUR][1000 genomes]
rs295459	1.00[EUR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4282092	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs4289375	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs4324490	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373094	0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4378998	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4389512	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4450857	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4478107	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4522803	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4525902	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4543047	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682828	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4682832	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs4682833	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682834	1.00[EUR][1000 genomes]
rs4682835	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682836	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682838	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs4682841	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682843	1.00[EUR][1000 genomes]
rs4682846	1.00[EUR][1000 genomes]
rs4682847	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683277	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683279	1.00[EUR][1000 genomes]
rs4683282	1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs4683283	1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683284	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683285	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683286	0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	1.00[EUR][1000 genomes]
rs4683290	1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683291	1.00[TSI][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683292	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4683293	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683303	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6442041	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442042	1.00[EUR][1000 genomes]
rs6442043	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs6442044	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442047	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442048	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6766676	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6768169	1.00[EUR][1000 genomes]
rs6772449	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs6775797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778673	1.00[EUR][1000 genomes]
rs6778687	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs6780994	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785462	1.00[EUR][1000 genomes]
rs6787210	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs6804732	1.00[EUR][1000 genomes]
rs6806521	1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808052	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs6809904	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs731626	0.85[AMR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621530	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7624549	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7625011	0.85[YRI][hapmap]
rs7630154	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7630415	0.85[AMR][1000 genomes]
rs7630904	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7638549	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7639121	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7643868	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7644382	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7646076	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7649413	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7649941	0.89[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650142	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807933	1.00[EUR][1000 genomes]
rs924009	1.00[EUR][1000 genomes]
rs936173	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs936177	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs936178	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936179	1.00[EUR][1000 genomes]
rs936180	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs936181	1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936182	1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936185	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs936186	0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9810881	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9812407	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9819344	1.00[EUR][1000 genomes]
rs9819475	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9823480	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9826669	0.85[AMR][1000 genomes]
rs9827293	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9828473	0.89[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs9833500	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9836801	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs9850151	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9862711	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	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
5	nsv997261	chr3:47054766-47133680	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47078000-47130600	Weak transcription	Stomach Mucosa	stomach
2	chr3:47079600-47123800	Weak transcription	Pancreas	Pancrea
3	chr3:47079600-47124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47079800-47124200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:47083000-47106400	Weak transcription	Colonic Mucosa	Colon
6	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
7	chr3:47083400-47117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
9	chr3:47084200-47102800	Weak transcription	HUVEC	blood vessel
10	chr3:47084400-47104800	Weak transcription	Fetal Kidney	kidney
11	chr3:47084400-47116000	Weak transcription	Right Ventricle	heart
12	chr3:47088200-47112800	Weak transcription	NHDF-Ad	bronchial
13	chr3:47089000-47117000	Weak transcription	Fetal Heart	heart
14	chr3:47089400-47107000	Weak transcription	Brain Substantia Nigra	brain
15	chr3:47089600-47103600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:47093400-47122600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:47093600-47109800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:47093800-47123400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr3:47094200-47123800	Weak transcription	Esophagus	oesophagus
20	chr3:47094600-47113400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr3:47095800-47121000	Weak transcription	Fetal Brain Male	brain
22	chr3:47096200-47111200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr3:47096800-47105400	Strong transcription	Fetal Intestine Small	intestine
24	chr3:47096800-47108200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:47097600-47108800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:47097800-47105400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr3:47098800-47103000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr3:47098800-47103600	Weak transcription	Fetal Lung	lung
29	chr3:47098800-47104400	Weak transcription	GM12878-XiMat	blood
30	chr3:47098800-47105600	Weak transcription	NH-A	brain
31	chr3:47098800-47106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:47098800-47106600	Weak transcription	Ovary	ovary
33	chr3:47098800-47115200	Weak transcription	HSMMtube	muscle
34	chr3:47098800-47118200	Weak transcription	NHLF	lung
35	chr3:47098800-47121800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr3:47098800-47122000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:47098800-47122000	Weak transcription	Aorta	Aorta
38	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr3:47099000-47102200	Weak transcription	HSMM	muscle
40	chr3:47099000-47102800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:47099000-47102800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr3:47099000-47103000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:47099000-47103400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:47099000-47103600	Weak transcription	Thymus	Thymus
45	chr3:47099000-47103800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr3:47099000-47104000	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:47099000-47104200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr3:47099000-47104800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:47099000-47105800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:47099000-47107000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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