Variant report

Variant	rs11833478
Chromosome Location	chr12:51355974-51355975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:51355170..51357376-chr12:51359350..51361251,2	K562	blood:
2	chr12:51331181..51333310-chr12:51354155..51356249,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1096028	1.00[EUR][1000 genomes]
rs1096029	1.00[EUR][1000 genomes]
rs11169705	1.00[EUR][1000 genomes]
rs11169713	1.00[EUR][1000 genomes]
rs11832566	1.00[EUR][1000 genomes]
rs12307173	1.00[EUR][1000 genomes]
rs12316220	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1595597	1.00[EUR][1000 genomes]
rs1642998	1.00[EUR][1000 genomes]
rs1975351	1.00[EUR][1000 genomes]
rs2359188	1.00[EUR][1000 genomes]
rs2554869	1.00[EUR][1000 genomes]
rs4768910	1.00[EUR][1000 genomes]
rs4768919	1.00[EUR][1000 genomes]
rs7315404	1.00[AMR][1000 genomes]
rs7973984	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7978782	1.00[EUR][1000 genomes]
rs829116	1.00[EUR][1000 genomes]
rs829117	1.00[EUR][1000 genomes]
rs829118	1.00[EUR][1000 genomes]
rs829119	1.00[EUR][1000 genomes]
rs829121	1.00[EUR][1000 genomes]
rs829136	1.00[EUR][1000 genomes]
rs829137	1.00[EUR][1000 genomes]
rs829138	1.00[EUR][1000 genomes]
rs9943796	1.00[EUR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1053466	chr12:51350285-51375969	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51323000-51377200	Weak transcription	Aorta	Aorta
2	chr12:51328800-51378000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:51329600-51373600	Weak transcription	Left Ventricle	heart
4	chr12:51331400-51378400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:51331600-51373800	Weak transcription	Pancreas	Pancrea
6	chr12:51331800-51382000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:51331800-51382000	Weak transcription	Ovary	ovary
8	chr12:51332600-51365000	Weak transcription	Fetal Brain Female	brain
9	chr12:51340000-51361800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:51341600-51378200	Weak transcription	Right Ventricle	heart
11	chr12:51341800-51372600	Weak transcription	Osteobl	bone
12	chr12:51341800-51383200	Weak transcription	Fetal Brain Male	brain
13	chr12:51342200-51361200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:51342400-51360000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:51342400-51373200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:51342800-51378400	Weak transcription	NHLF	lung
17	chr12:51343000-51366200	Weak transcription	Brain Germinal Matrix	brain
18	chr12:51343200-51361600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:51343600-51366200	Weak transcription	Gastric	stomach
20	chr12:51344000-51361400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr12:51344000-51382000	Weak transcription	Esophagus	oesophagus
22	chr12:51344600-51381600	Weak transcription	Spleen	Spleen
23	chr12:51345000-51361200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:51347000-51360600	Weak transcription	Fetal Stomach	stomach
25	chr12:51347000-51361200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:51347200-51360200	Weak transcription	Lung	lung
27	chr12:51347200-51361400	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:51347200-51362000	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:51347200-51378000	Weak transcription	Brain Angular Gyrus	brain
30	chr12:51347400-51360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:51347400-51378000	Weak transcription	Brain Anterior Caudate	brain
32	chr12:51348000-51360400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:51349000-51360600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:51349200-51363600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:51350800-51380600	Weak transcription	Fetal Lung	lung
36	chr12:51351200-51365200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:51354200-51361800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:51354200-51363000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:51354200-51365200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:51354400-51360000	Weak transcription	Primary T cells from cord blood	blood
41	chr12:51354400-51365200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:51354400-51365200	Weak transcription	Dnd41	blood
43	chr12:51354400-51383800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:51354600-51364200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:51355200-51356200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:51355200-51356200	Enhancers	HSMMtube	muscle
47	chr12:51355200-51365200	Weak transcription	HSMM	muscle
48	chr12:51355400-51356000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr12:51355400-51356800	Enhancers	Stomach Mucosa	stomach
50	chr12:51355600-51356000	Enhancers	Skeletal Muscle Male	skeletal muscle

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