Variant report

Variant	rs73060051
Chromosome Location	chr12:12169720-12169721
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11611671	0.83[EUR][1000 genomes]
rs11612107	0.89[EUR][1000 genomes]
rs11612467	0.84[AMR][1000 genomes]
rs11613000	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11614162	0.83[EUR][1000 genomes]
rs11615635	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73058021	0.84[AMR][1000 genomes]
rs73058025	0.84[AMR][1000 genomes]
rs73060021	0.84[AMR][1000 genomes]
rs73060038	0.89[EUR][1000 genomes]
rs73060040	0.91[EUR][1000 genomes]
rs73060042	0.89[EUR][1000 genomes]
rs73060056	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73062023	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12163600-12171600	Weak transcription	Gastric	stomach
2	chr12:12163800-12171400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:12164000-12171400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:12164200-12169800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:12164200-12171600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:12164400-12171000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:12164400-12171200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:12164600-12171200	Weak transcription	Right Atrium	heart
9	chr12:12164600-12172600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:12164800-12169800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:12164800-12170200	Weak transcription	Placenta	Placenta
12	chr12:12164800-12170400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:12164800-12179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:12165400-12170600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:12165800-12169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:12166600-12171800	Enhancers	Fetal Muscle Leg	muscle
17	chr12:12166800-12171600	Enhancers	Fetal Thymus	thymus
18	chr12:12167400-12170600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:12167800-12170800	Enhancers	Dnd41	blood
20	chr12:12167800-12171400	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:12167800-12171800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:12168000-12170600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:12168000-12170800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:12168000-12171400	Enhancers	GM12878-XiMat	blood
25	chr12:12168000-12172600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:12168200-12170000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:12168200-12171800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:12168400-12170000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:12168400-12171400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr12:12168600-12170600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr12:12168800-12170000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:12168800-12172200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:12169000-12170000	Enhancers	HSMMtube	muscle
34	chr12:12169000-12170200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr12:12169000-12170200	Enhancers	Adipose Nuclei	Adipose
36	chr12:12169000-12171000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:12169200-12169800	Enhancers	HSMM	muscle
38	chr12:12169200-12170400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:12169200-12170600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:12169200-12170600	Enhancers	Psoas Muscle	Psoas
41	chr12:12169200-12171400	Enhancers	Osteobl	bone
42	chr12:12169200-12171600	Enhancers	Thymus	Thymus
43	chr12:12169200-12171800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:12169200-12171800	Enhancers	Fetal Muscle Trunk	muscle
45	chr12:12169200-12172000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:12169200-12172200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:12169400-12169800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:12169400-12169800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:12169400-12169800	Weak transcription	Lung	lung
50	chr12:12169400-12170200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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