Variant report

Variant	rs61933209
Chromosome Location	chr12:64894359-64894360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11829120	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11837890	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075094	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292023	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55654954	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55690537	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55999447	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56198126	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326550	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58143737	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60358746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60520114	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61396007	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61931543	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61931544	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931545	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931549	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931550	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931552	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931555	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931557	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61931558	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61933191	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933192	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933195	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933198	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933199	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933200	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933201	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933204	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933205	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61933207	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933212	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303577	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120383	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73122367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488918	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64847000-64900800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:64853400-64896800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:64854400-64897200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:64862800-64896800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:64866000-64897000	Weak transcription	Esophagus	oesophagus
6	chr12:64869800-64895400	Weak transcription	Fetal Kidney	kidney
7	chr12:64871000-64896000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:64871000-64908200	Weak transcription	Psoas Muscle	Psoas
9	chr12:64871200-64895000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:64871200-64897000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:64872200-64896200	Strong transcription	Liver	Liver
12	chr12:64872400-64895600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:64872400-64895800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:64872400-64896800	Strong transcription	Placenta	Placenta
15	chr12:64872600-64896000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:64873600-64895600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:64873600-64895800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:64873600-64895800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:64874200-64896800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:64874400-64896000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:64874400-64896000	Strong transcription	Osteobl	bone
22	chr12:64875000-64895800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:64875000-64896600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:64875200-64895600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:64875400-64895400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:64875600-64895800	Strong transcription	Adipose Nuclei	Adipose
27	chr12:64876200-64895000	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:64878400-64895600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:64879600-64895800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:64880600-64895200	Weak transcription	Pancreas	Pancrea
31	chr12:64882200-64896000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr12:64884400-64895400	Weak transcription	Brain Germinal Matrix	brain
33	chr12:64884600-64894600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:64884600-64897800	Weak transcription	Aorta	Aorta
35	chr12:64885200-64894600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:64885400-64897400	Weak transcription	Gastric	stomach
37	chr12:64885400-64904400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:64887000-64895800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:64887600-64895600	Strong transcription	GM12878-XiMat	blood
40	chr12:64887600-64896000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:64887600-64898200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:64887800-64902800	Weak transcription	Colonic Mucosa	Colon
43	chr12:64888000-64896800	Strong transcription	HSMM	muscle
44	chr12:64888200-64897000	Weak transcription	Spleen	Spleen
45	chr12:64888400-64895600	Strong transcription	NH-A	brain
46	chr12:64888400-64904600	Weak transcription	Left Ventricle	heart
47	chr12:64888600-64894600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr12:64889200-64894600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:64889200-64895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:64889200-64896200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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