Variant report

Variant	rs9878813
Chromosome Location	chr3:47089654-47089655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47081998..47084579-chr3:47088555..47090930,2	K562	blood:

Extended variants
information (count: 169 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs1024036	1.00[EUR][1000 genomes]
rs10461017	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10461019	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs11130108	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	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709693	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709876	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11713537	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs11928558	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12330516	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12487763	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
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[EUR][1000 genomes]
rs1378818	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1463394	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1466272	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[EUR][1000 genomes]
rs1563431	1.00[EUR][1000 genomes]
rs1563432	1.00[EUR][1000 genomes]
rs1814564	1.00[EUR][1000 genomes]
rs1869870	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2124509	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2385869	0.87[AMR][1000 genomes]
rs28735306	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2891887	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
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]
rs295459	1.00[EUR][1000 genomes]
rs34147581	1.00[EUR][1000 genomes]
rs35366910	1.00[EUR][1000 genomes]
rs4018904	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4282092	1.00[EUR][1000 genomes]
rs4289375	1.00[EUR][1000 genomes]
rs4324490	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373094	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	0.87[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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682828	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4682832	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	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[EUR][1000 genomes]
rs4683277	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683279	1.00[EUR][1000 genomes]
rs4683283	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683284	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683285	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683286	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683288	1.00[EUR][1000 genomes]
rs4683289	1.00[EUR][1000 genomes]
rs4683290	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683291	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683292	1.00[EUR][1000 genomes]
rs4683293	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4683303	1.00[EUR][1000 genomes]
rs6442041	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442042	1.00[EUR][1000 genomes]
rs6442043	1.00[EUR][1000 genomes]
rs6442044	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442047	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6768169	1.00[EUR][1000 genomes]
rs6772449	1.00[EUR][1000 genomes]
rs6775797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778673	1.00[EUR][1000 genomes]
rs6778687	1.00[EUR][1000 genomes]
rs6780994	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6785462	1.00[EUR][1000 genomes]
rs6787210	1.00[EUR][1000 genomes]
rs6804732	1.00[EUR][1000 genomes]
rs6806521	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808052	1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs6809904	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	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7630415	0.85[AMR][1000 genomes]
rs7630904	1.00[EUR][1000 genomes]
rs7638549	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7639121	1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7643868	1.00[EUR][1000 genomes]
rs7644382	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7646076	1.00[EUR][1000 genomes]
rs7649413	1.00[EUR][1000 genomes]
rs7649941	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650142	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[EUR][1000 genomes]
rs936177	1.00[EUR][1000 genomes]
rs936178	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936179	1.00[EUR][1000 genomes]
rs936180	1.00[EUR][1000 genomes]
rs936181	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936182	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs936185	1.00[EUR][1000 genomes]
rs936186	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9810881	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9812407	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9819344	1.00[EUR][1000 genomes]
rs9819475	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9823480	1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9826669	0.85[AMR][1000 genomes]
rs9827293	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9828473	1.00[EUR][1000 genomes]
rs9833500	1.00[EUR][1000 genomes]
rs9836801	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	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9883152	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883909	1.00[EUR][1000 genomes]
rs9990284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];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	chr3:47078800-47101400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:47079400-47095800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:47079600-47123800	Weak transcription	Pancreas	Pancrea
5	chr3:47079600-47124200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:47079800-47095000	Weak transcription	HMEC	breast
7	chr3:47079800-47098000	Weak transcription	Aorta	Aorta
8	chr3:47079800-47124200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:47080000-47095200	Weak transcription	Fetal Brain Male	brain
10	chr3:47083000-47098000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:47083000-47098000	Weak transcription	A549	lung
12	chr3:47083000-47098400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:47083000-47106400	Weak transcription	Colonic Mucosa	Colon
14	chr3:47083200-47097800	Weak transcription	Gastric	stomach
15	chr3:47083200-47098000	Weak transcription	Brain Germinal Matrix	brain
16	chr3:47083200-47098000	Weak transcription	Ovary	ovary
17	chr3:47083200-47098200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
19	chr3:47083400-47117200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
21	chr3:47083800-47097600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:47083800-47097600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:47083800-47097800	Weak transcription	Fetal Brain Female	brain
24	chr3:47083800-47098000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:47083800-47098200	Weak transcription	NHLF	lung
26	chr3:47084000-47098000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr3:47084200-47093800	Weak transcription	Esophagus	oesophagus
28	chr3:47084200-47094600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:47084200-47097800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:47084200-47097800	Weak transcription	Spleen	Spleen
31	chr3:47084200-47098000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:47084200-47098000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:47084200-47098200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:47084200-47098200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:47084200-47098200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:47084200-47098200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:47084200-47098400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:47084200-47102800	Weak transcription	HUVEC	blood vessel
39	chr3:47084400-47097800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:47084400-47104800	Weak transcription	Fetal Kidney	kidney
41	chr3:47084400-47116000	Weak transcription	Right Ventricle	heart
42	chr3:47084800-47097800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr3:47084800-47098000	Weak transcription	Fetal Lung	lung
44	chr3:47085200-47095000	Weak transcription	Osteobl	bone
45	chr3:47085400-47094800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:47086400-47095200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:47086600-47093400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:47086600-47093400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:47086600-47094600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr3:47086600-47094800	Weak transcription	HepG2	liver

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