Variant report

Variant	rs11065294
Chromosome Location	chr12:121289696-121289697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1055059	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849777	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10849797	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065201	1.00[ASN][1000 genomes]
rs11065207	1.00[ASN][1000 genomes]
rs11065210	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065213	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065222	0.83[AMR][1000 genomes]
rs11065226	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065227	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065228	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065253	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065254	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065258	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065260	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065263	0.83[AMR][1000 genomes]
rs11065267	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065279	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065281	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11065285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065288	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065308	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065309	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065315	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065318	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065326	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065328	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065334	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11065347	1.00[ASN][1000 genomes]
rs11065353	1.00[ASN][1000 genomes]
rs1151854	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151855	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151860	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151865	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186042	1.00[ASN][1000 genomes]
rs12366451	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368617	1.00[ASN][1000 genomes]
rs12370534	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1696358	1.00[ASN][1000 genomes]
rs1718207	1.00[ASN][1000 genomes]
rs1732397	1.00[ASN][1000 genomes]
rs1732399	1.00[ASN][1000 genomes]
rs2454728	1.00[ASN][1000 genomes]
rs2701179	1.00[ASN][1000 genomes]
rs497457	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs498255	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs513940	1.00[ASN][1000 genomes]
rs515784	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519785	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs530162	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs554197	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572009	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs574993	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs581197	1.00[ASN][1000 genomes]
rs581515	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582678	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs590556	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs591489	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59818945	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61108232	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61414515	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61624288	1.00[ASN][1000 genomes]
rs627211	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639343	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645661	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645786	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647336	1.00[ASN][1000 genomes]
rs648262	1.00[ASN][1000 genomes]
rs651156	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660878	1.00[ASN][1000 genomes]
rs671815	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708784	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708788	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409953	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73411916	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73413866	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73413874	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7960932	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv3405224	chr12:121289394-121291942	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3446240	chr12:121289469-121291617	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121269800-121291400	Weak transcription	Fetal Intestine Large	intestine
2	chr12:121274200-121291800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:121274600-121289800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:121274800-121291800	Weak transcription	Dnd41	blood
5	chr12:121281600-121296200	Weak transcription	HepG2	liver
6	chr12:121282000-121308600	Weak transcription	Fetal Kidney	kidney
7	chr12:121283200-121291200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:121283200-121310200	Weak transcription	Placenta	Placenta
9	chr12:121283400-121291800	Weak transcription	Pancreas	Pancrea
10	chr12:121283400-121307400	Weak transcription	Esophagus	oesophagus
11	chr12:121283600-121290800	Weak transcription	Gastric	stomach
12	chr12:121283600-121295600	Weak transcription	Fetal Stomach	stomach
13	chr12:121283600-121302200	Weak transcription	Lung	lung
14	chr12:121284000-121294400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:121284600-121292800	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:121285000-121290800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:121285600-121290000	Enhancers	Fetal Heart	heart
18	chr12:121286000-121291800	Weak transcription	Fetal Intestine Small	intestine
19	chr12:121286200-121291400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:121286400-121290800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:121286400-121291000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:121286400-121291000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:121286400-121291200	Weak transcription	K562	blood
24	chr12:121286400-121293800	Weak transcription	Right Ventricle	heart
25	chr12:121286600-121293600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:121286800-121291200	Weak transcription	Primary T cells from cord blood	blood
27	chr12:121287000-121290000	Enhancers	Brain Hippocampus Middle	brain
28	chr12:121287400-121290000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:121287400-121290000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:121287400-121290000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:121287600-121290000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:121287600-121293400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:121287600-121294000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:121287800-121290000	Enhancers	Primary B cells from cord blood	blood
35	chr12:121287800-121290000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:121287800-121290200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr12:121287800-121290800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:121287800-121300400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:121288000-121290800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:121288000-121291000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:121288000-121291000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:121288000-121291000	Weak transcription	Adipose Nuclei	Adipose
43	chr12:121288000-121291000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:121288000-121292800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:121288000-121293400	Weak transcription	Brain Substantia Nigra	brain
46	chr12:121288000-121294400	Weak transcription	Right Atrium	heart
47	chr12:121288000-121294600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:121288000-121300200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:121288000-121311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:121288000-121316600	Weak transcription	NHLF	lung

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