Variant report

Variant	rs73530754
Chromosome Location	chr11:72099007-72099008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10501410	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11823672	0.82[EUR][1000 genomes]
rs12416804	0.91[EUR][1000 genomes]
rs12418637	0.85[EUR][1000 genomes]
rs12421674	0.91[EUR][1000 genomes]
rs17162126	0.91[EUR][1000 genomes]
rs34147990	0.83[EUR][1000 genomes]
rs3750906	0.80[EUR][1000 genomes]
rs474629	0.83[EUR][1000 genomes]
rs504217	0.83[EUR][1000 genomes]
rs55721826	0.80[EUR][1000 genomes]
rs55930012	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56076328	0.82[EUR][1000 genomes]
rs56171963	0.82[EUR][1000 genomes]
rs57928845	0.86[EUR][1000 genomes]
rs58044536	0.80[EUR][1000 genomes]
rs58941166	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58945323	0.91[EUR][1000 genomes]
rs60081894	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60712691	0.93[ASN][1000 genomes]
rs61036532	0.80[EUR][1000 genomes]
rs7124336	0.83[EUR][1000 genomes]
rs73530718	0.91[EUR][1000 genomes]
rs73530724	0.91[EUR][1000 genomes]
rs73530756	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530785	0.84[EUR][1000 genomes]
rs73532667	0.83[EUR][1000 genomes]
rs7940062	0.91[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	nsv832206	chr11:72006573-72176017	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72065000-72110800	Weak transcription	Hela-S3	cervix
2	chr11:72069400-72111400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr11:72073400-72103200	Weak transcription	K562	blood
4	chr11:72075000-72099400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:72090200-72103200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:72090400-72123000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:72090800-72105400	Weak transcription	Left Ventricle	heart
8	chr11:72091400-72106600	Weak transcription	Aorta	Aorta
9	chr11:72091400-72106600	Weak transcription	Ovary	ovary
10	chr11:72091400-72109600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:72091400-72111400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:72091600-72119200	Weak transcription	Thymus	Thymus
13	chr11:72093800-72109400	Weak transcription	Pancreas	Pancrea
14	chr11:72095200-72102600	Weak transcription	HepG2	liver
15	chr11:72095200-72103000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:72095200-72103200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:72095200-72112800	Weak transcription	Fetal Stomach	stomach
18	chr11:72095600-72106600	Weak transcription	Fetal Heart	heart
19	chr11:72095800-72110600	Weak transcription	Dnd41	blood
20	chr11:72096200-72100000	Weak transcription	Primary T cells from cord blood	blood
21	chr11:72096200-72108000	Weak transcription	Primary B cells from cord blood	blood
22	chr11:72096200-72110600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:72096400-72105600	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:72096800-72101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:72096800-72101600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:72098200-72108800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:72098400-72099200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:72098400-72101400	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:72098600-72099200	Enhancers	HSMMtube	muscle
30	chr11:72098600-72100400	Enhancers	HMEC	breast
31	chr11:72098600-72100600	Enhancers	NHEK	skin
32	chr11:72098800-72099200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:72098800-72099200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:72098800-72099200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:72098800-72099200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:72098800-72099200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:72098800-72099200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:72098800-72099200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:72098800-72099200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:72098800-72099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:72098800-72099200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:72098800-72099200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:72098800-72099200	Enhancers	Adipose Nuclei	Adipose
44	chr11:72098800-72099200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:72098800-72099200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr11:72098800-72099200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr11:72098800-72099200	Flanking Active TSS	GM12878-XiMat	blood
48	chr11:72098800-72099200	Enhancers	HSMM	muscle
49	chr11:72098800-72099200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:72098800-72099200	Enhancers	NH-A	brain

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