Variant report

Variant	rs17067226
Chromosome Location	chr6:106992008-106992009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:106991666-106992018	GM12892	blood:	n/a	n/a
2	POLR2A	chr6:106991615-106992030	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
AIM1	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10499046	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12523666	0.85[CHB][hapmap];0.85[ASN][1000 genomes]
rs12523769	0.81[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12524955	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12524961	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12525004	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs12525311	0.92[CHB][hapmap];0.86[ASN][1000 genomes]
rs12525436	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12525583	0.81[ASN][1000 genomes]
rs12526024	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs12527773	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs12528136	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs12528406	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs12528553	1.00[EUR][1000 genomes]
rs12529961	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs12530093	0.92[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs12663120	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[EUR][1000 genomes]
rs17067217	1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17067219	0.92[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17067245	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17067371	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17067393	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17067395	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs17067428	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs17067432	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17067435	0.92[CHB][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17067443	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs17067445	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17067469	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17067613	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs17067614	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs1979347	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[EUR][1000 genomes]
rs2353035	1.00[CEU][hapmap]
rs2353041	1.00[CEU][hapmap]
rs2792467	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3761800	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs3789230	1.00[EUR][1000 genomes]
rs3804339	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4276539	0.82[EUR][1000 genomes]
rs4363071	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[EUR][1000 genomes]
rs4946766	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56664576	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56725742	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56845422	1.00[EUR][1000 genomes]
rs58482231	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58620450	0.85[ASN][1000 genomes]
rs59480706	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59668897	1.00[EUR][1000 genomes]
rs59962977	0.85[ASN][1000 genomes]
rs72945007	0.85[ASN][1000 genomes]
rs72945013	0.85[ASN][1000 genomes]
rs72945015	0.85[ASN][1000 genomes]
rs72945026	0.85[ASN][1000 genomes]
rs72945035	0.85[ASN][1000 genomes]
rs72945036	0.85[ASN][1000 genomes]
rs72945040	0.85[ASN][1000 genomes]
rs72945046	0.85[ASN][1000 genomes]
rs72945053	0.85[ASN][1000 genomes]
rs72945059	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1017419	chr6:106984669-106997000	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-107001400	Weak transcription	Gastric	stomach
2	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
3	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:106973600-106992800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:106978800-106993800	Weak transcription	NHLF	lung
6	chr6:106979000-107001400	Weak transcription	Pancreas	Pancrea
7	chr6:106981600-106995600	Weak transcription	Colonic Mucosa	Colon
8	chr6:106982400-107000800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:106982800-106993200	Weak transcription	HUVEC	blood vessel
10	chr6:106985000-106993800	Weak transcription	NH-A	brain
11	chr6:106985800-107019200	Weak transcription	Aorta	Aorta
12	chr6:106986200-106993400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:106986200-106994000	Weak transcription	Stomach Mucosa	stomach
14	chr6:106986400-106993000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:106986400-106994600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:106986400-106995000	Weak transcription	Thymus	Thymus
17	chr6:106986800-106994400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:106987000-106992200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:106987000-106993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:106987400-106993800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:106987600-106993400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:106987800-106993800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:106988200-106993200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr6:106988200-106993400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:106988200-106993800	Weak transcription	Esophagus	oesophagus
26	chr6:106988200-107001400	Weak transcription	Lung	lung
27	chr6:106988400-106994000	Strong transcription	GM12878-XiMat	blood
28	chr6:106988400-106995600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:106988600-106992600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:106988600-106993200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:106988800-106994600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:106989000-106993200	Strong transcription	HMEC	breast
33	chr6:106989000-106994000	Strong transcription	Fetal Intestine Large	intestine
34	chr6:106989200-106993200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:106989200-106994000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:106989200-106994600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:106989400-106992400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:106989400-106992800	Strong transcription	Primary B cells from cord blood	blood
39	chr6:106989400-106993000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:106989400-106993800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:106989800-106993800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:106989800-106994000	Weak transcription	Hela-S3	cervix
43	chr6:106989800-106995800	Weak transcription	Fetal Stomach	stomach
44	chr6:106990800-106992800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:106991000-106992800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:106991000-106993000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:106991000-106993000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr6:106991000-106993800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:106991000-106993800	Weak transcription	HSMM	muscle
50	chr6:106991200-106992600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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