Variant report

Variant	rs11174462
Chromosome Location	chr12:62799401-62799402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11174402	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174406	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174407	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174414	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174415	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174429	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174443	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174444	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174454	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174457	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174461	0.82[MEX][hapmap];1.00[ASN][1000 genomes]
rs11174476	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174479	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11174492	1.00[ASN][1000 genomes]
rs11174499	1.00[ASN][1000 genomes]
rs11174500	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11174501	1.00[ASN][1000 genomes]
rs11174506	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11174512	1.00[ASN][1000 genomes]
rs11174524	1.00[ASN][1000 genomes]
rs11174548	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11174556	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs12811821	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814369	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816968	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818818	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821047	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12821894	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826072	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17718211	1.00[ASN][1000 genomes]
rs34007988	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34162598	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34251904	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301355	1.00[ASN][1000 genomes]
rs34339271	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34684698	1.00[ASN][1000 genomes]
rs35360491	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35533759	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465148	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465151	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309464	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7314752	1.00[ASN][1000 genomes]
rs7970822	1.00[ASN][1000 genomes]
rs7972031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap]
rs7973386	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976993	1.00[ASN][1000 genomes]
rs7978244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv1803510	chr12:62729782-62802643	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv469417	chr12:62751242-62802643	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv559155	chr12:62751242-62802643	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv899154	chr12:62764909-62811328	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv899155	chr12:62764909-62817736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv899156	chr12:62783967-62831343	Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv899157	chr12:62783967-62843620	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62763000-62805400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:62767400-62807600	Weak transcription	HSMMtube	muscle
3	chr12:62769200-62805000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:62769400-62809600	Weak transcription	Stomach Mucosa	stomach
5	chr12:62772600-62800800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr12:62773600-62802400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:62774200-62800000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr12:62774200-62802200	Strong transcription	Dnd41	blood
9	chr12:62774400-62802200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:62774600-62802000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:62774800-62801600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:62774800-62802200	Strong transcription	Fetal Thymus	thymus
13	chr12:62774800-62803200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:62775200-62802000	Strong transcription	Primary B cells from cord blood	blood
15	chr12:62775200-62802600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:62775600-62807800	Weak transcription	Aorta	Aorta
17	chr12:62777000-62801200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:62777200-62799600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:62778600-62800400	Weak transcription	Psoas Muscle	Psoas
20	chr12:62781200-62801600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:62782200-62801800	Strong transcription	GM12878-XiMat	blood
22	chr12:62782600-62802400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:62782800-62801200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:62782800-62802000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:62783400-62803400	Weak transcription	NHEK	skin
26	chr12:62783600-62799800	Strong transcription	Placenta	Placenta
27	chr12:62784200-62802400	Weak transcription	Pancreas	Pancrea
28	chr12:62784600-62799600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:62787800-62803600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:62788000-62801600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:62788200-62800600	Weak transcription	Brain Anterior Caudate	brain
32	chr12:62788200-62800800	Weak transcription	Fetal Kidney	kidney
33	chr12:62788400-62800200	Weak transcription	Colonic Mucosa	Colon
34	chr12:62789200-62799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:62789600-62801000	Strong transcription	Primary T cells from cord blood	blood
36	chr12:62789800-62800800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:62791000-62799600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:62791000-62800000	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:62791000-62802000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:62791200-62801400	Weak transcription	Fetal Heart	heart
41	chr12:62791600-62807000	Weak transcription	Esophagus	oesophagus
42	chr12:62792000-62799800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:62792200-62802400	Weak transcription	Fetal Intestine Small	intestine
44	chr12:62792400-62802400	Weak transcription	Fetal Stomach	stomach
45	chr12:62792600-62802200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:62793000-62801400	Weak transcription	HepG2	liver
47	chr12:62793200-62799600	Weak transcription	Ovary	ovary
48	chr12:62793200-62799800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:62793200-62802000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:62793200-62802200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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