Variant report

Variant	rs12286840
Chromosome Location	chr11:73232563-73232564
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73231178..73234417-chr11:73236795..73240578,4	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10047427	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10082565	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1054726	1.00[AMR][1000 genomes]
rs11235732	1.00[AMR][1000 genomes]
rs11235744	1.00[AMR][1000 genomes]
rs11235750	1.00[AMR][1000 genomes]
rs11235756	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235758	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235766	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235769	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235785	0.98[AFR][1000 genomes]
rs11235804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11235817	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11819847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822862	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12269810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12270051	0.84[AFR][1000 genomes]
rs12273771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274281	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274787	1.00[AMR][1000 genomes]
rs12277410	1.00[AMR][1000 genomes]
rs12279375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279753	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12290126	1.00[AMR][1000 genomes]
rs12295567	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377500	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17132131	0.95[AFR][1000 genomes];1.00[AMR][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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv508641	chr11:73149281-73235528	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73202400-73240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:73205000-73239600	Weak transcription	Primary B cells from cord blood	blood
3	chr11:73205600-73236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:73205800-73241400	Weak transcription	Pancreas	Pancrea
5	chr11:73206200-73232600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:73218600-73232600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:73219200-73241400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr11:73221200-73238000	Weak transcription	Psoas Muscle	Psoas
9	chr11:73221400-73238200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:73221800-73239600	Weak transcription	Liver	Liver
11	chr11:73223000-73232600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:73226400-73239600	Weak transcription	Fetal Stomach	stomach
13	chr11:73229400-73232800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:73230000-73233800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:73230000-73234600	Enhancers	Dnd41	blood
16	chr11:73230200-73233400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:73230400-73233400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:73230400-73233600	Enhancers	Brain Substantia Nigra	brain
19	chr11:73230800-73232600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:73230800-73232600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:73230800-73239600	Weak transcription	NHDF-Ad	bronchial
22	chr11:73231200-73233200	Enhancers	HUVEC	blood vessel
23	chr11:73231400-73233000	Enhancers	Primary hematopoietic stem cells	blood
24	chr11:73231400-73233000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:73231400-73233200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:73231400-73233400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr11:73231400-73233400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:73231400-73233800	Enhancers	Primary T cells from cord blood	blood
29	chr11:73231600-73232600	Enhancers	Thymus	Thymus
30	chr11:73231600-73233000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:73231600-73233000	Enhancers	Fetal Thymus	thymus
32	chr11:73231600-73233000	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:73231600-73233200	Enhancers	Brain Cingulate Gyrus	brain
34	chr11:73231800-73232600	Enhancers	Brain Germinal Matrix	brain
35	chr11:73231800-73233000	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:73231800-73233000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:73231800-73233000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:73231800-73233000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:73231800-73233000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:73231800-73233000	Enhancers	Brain Anterior Caudate	brain
41	chr11:73231800-73233200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:73231800-73233200	Enhancers	Brain Angular Gyrus	brain
43	chr11:73231800-73233200	Enhancers	Brain Hippocampus Middle	brain
44	chr11:73231800-73233400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:73231800-73233400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr11:73232000-73233000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:73232000-73233200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:73232000-73233200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:73232200-73232600	Enhancers	Left Ventricle	heart
50	chr11:73232200-73232800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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