Variant report

Variant	rs9812407
Chromosome Location	chr3:47126474-47126475
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47125477..47129323-chr3:47137612..47139651,3	K562	blood:

Extended variants
information (count: 180 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:173)

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]
rs1091068	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	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11709693	0.81[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	0.85[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	0.83[AFR][1000 genomes];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	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2891887	0.81[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]
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	0.97[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]
rs448018	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	0.81[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]
rs648226	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	0.94[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	0.81[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	0.97[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]
rs807930	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]
rs9819344	1.00[EUR][1000 genomes]
rs9819475	0.97[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	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9828124	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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]
rs9878813	0.90[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]
rs9990284	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv1002970	chr3:47120592-47170607	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 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	chr3:47083200-47135200	Weak transcription	Small Intestine	intestine
3	chr3:47083400-47138600	Weak transcription	Psoas Muscle	Psoas
4	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:47099000-47128200	Weak transcription	Spleen	Spleen
6	chr3:47101400-47147800	Strong transcription	Dnd41	blood
7	chr3:47110200-47150200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:47110400-47133200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr3:47110600-47131600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:47110600-47148000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:47111000-47147600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr3:47111800-47132400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:47112400-47153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:47114600-47147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:47114800-47137600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:47115400-47128000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr3:47115400-47131400	Strong transcription	HSMM	muscle
18	chr3:47115400-47147800	Strong transcription	Fetal Thymus	thymus
19	chr3:47117000-47129600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:47117200-47131600	Strong transcription	Liver	Liver
21	chr3:47117200-47133000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:47117400-47129400	Strong transcription	Fetal Intestine Large	intestine
23	chr3:47117400-47129800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:47117600-47131800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:47117600-47148600	Strong transcription	Placenta	Placenta
26	chr3:47117800-47127600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:47117800-47129400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr3:47118200-47126600	Strong transcription	NHEK	skin
29	chr3:47118200-47130600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:47118200-47131600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:47118200-47139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr3:47118200-47148600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:47118400-47140600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:47118600-47143400	Weak transcription	Fetal Heart	heart
35	chr3:47119200-47131600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:47120200-47127200	Strong transcription	Left Ventricle	heart
37	chr3:47120200-47128800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:47120200-47129000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:47120200-47135600	Weak transcription	A549	lung
40	chr3:47120600-47128000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:47120600-47129200	Strong transcription	K562	blood
42	chr3:47120800-47129000	Strong transcription	HepG2	liver
43	chr3:47120800-47131400	Strong transcription	Primary T cells from cord blood	blood
44	chr3:47120800-47131600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr3:47120800-47131800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:47121200-47128000	Strong transcription	NH-A	brain
47	chr3:47121400-47129200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:47121400-47129600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:47121600-47128000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:47121600-47132400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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