Variant report

Variant	rs12289324
Chromosome Location	chr11:66985623-66985624
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66985161..66986852-chr11:66992934..66995353,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11227728	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272826	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs12278721	1.00[AMR][1000 genomes]
rs12279118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284546	0.81[LWK][hapmap];0.95[MKK][hapmap]
rs12285582	0.87[MKK][hapmap]
rs12286664	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730144	1.00[AMR][1000 genomes]
rs7128315	0.91[MKK][hapmap]
rs948988	0.91[MKK][hapmap]
rs9704725	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv972951	chr11:66980475-66986736	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66936400-67006200	Weak transcription	Stomach Mucosa	stomach
2	chr11:66948200-66986400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:66951200-66986600	Weak transcription	Fetal Brain Male	brain
4	chr11:66954600-66993000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:66956400-67005000	Weak transcription	Fetal Heart	heart
6	chr11:66962200-66999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:66962600-66995000	Weak transcription	Psoas Muscle	Psoas
8	chr11:66964400-66989400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:66964600-67002400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:66965200-67006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:66966400-66989400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:66970400-66988800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:66971400-66989200	Strong transcription	Placenta	Placenta
14	chr11:66972400-66989600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:66972600-66987800	Strong transcription	Fetal Stomach	stomach
16	chr11:66972600-66989000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:66972800-66987600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:66972800-66988400	Strong transcription	Fetal Intestine Large	intestine
19	chr11:66972800-67002600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr11:66973000-66989200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:66973000-67005400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:66973400-66988200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:66973800-66987800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:66974400-66988000	Strong transcription	HepG2	liver
25	chr11:66974400-66988200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:66974400-66989000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:66974600-66989400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:66974600-66993000	Strong transcription	Dnd41	blood
29	chr11:66974600-66993200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:66974600-66993400	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:66974800-66997600	Strong transcription	Fetal Thymus	thymus
32	chr11:66975000-66989400	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:66975000-66993200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:66976400-66993000	Strong transcription	Osteobl	bone
35	chr11:66976600-66986200	Weak transcription	Right Ventricle	heart
36	chr11:66977400-66989200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:66979600-66986800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:66980200-66988000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:66980400-66986800	Strong transcription	A549	lung
40	chr11:66980400-67002200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:66980800-67005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:66981000-67003800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:66981600-67005200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr11:66981800-67006400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr11:66982000-66987800	Strong transcription	Thymus	Thymus
46	chr11:66982000-66991800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:66982000-66993200	Strong transcription	GM12878-XiMat	blood
48	chr11:66982000-66997800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:66982000-67005800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:66982200-66987200	Strong transcription	Fetal Lung	lung

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