Variant report

Variant	rs73454052
Chromosome Location	chr11:46729337-46729338
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46727818..46730123-chrX:69570212..69571712,2	MCF-7	breast:
2	chr11:46698595..46700569-chr11:46727861..46730594,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11038924	1.00[AMR][1000 genomes]
rs12099188	1.00[AMR][1000 genomes]
rs3136464	1.00[AMR][1000 genomes]
rs3136477	1.00[AMR][1000 genomes]
rs3136492	1.00[AMR][1000 genomes]
rs36017347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57328824	1.00[AMR][1000 genomes]
rs57479473	1.00[AMR][1000 genomes]
rs57923752	1.00[AMR][1000 genomes]
rs58634563	1.00[AMR][1000 genomes]
rs59488332	1.00[AMR][1000 genomes]
rs59664414	1.00[AMR][1000 genomes]
rs60026983	1.00[AMR][1000 genomes]
rs60147143	1.00[AMR][1000 genomes]
rs73449906	1.00[AMR][1000 genomes]
rs73449908	1.00[AMR][1000 genomes]
rs73449917	1.00[AMR][1000 genomes]
rs73449920	1.00[AMR][1000 genomes]
rs73449937	1.00[AMR][1000 genomes]
rs73449939	1.00[AMR][1000 genomes]
rs73449943	1.00[AMR][1000 genomes]
rs73449949	1.00[AMR][1000 genomes]
rs73449951	1.00[AMR][1000 genomes]
rs73449956	1.00[AMR][1000 genomes]
rs73449974	1.00[AMR][1000 genomes]
rs73449985	1.00[AMR][1000 genomes]
rs73449986	1.00[AMR][1000 genomes]
rs73450002	1.00[AMR][1000 genomes]
rs73451811	1.00[AMR][1000 genomes]
rs73451819	1.00[AMR][1000 genomes]
rs73451822	1.00[AMR][1000 genomes]
rs73451825	1.00[AMR][1000 genomes]
rs73451848	1.00[AMR][1000 genomes]
rs73451858	1.00[AMR][1000 genomes]
rs73451860	1.00[AMR][1000 genomes]
rs73451863	1.00[AMR][1000 genomes]
rs73451865	1.00[AMR][1000 genomes]
rs73451868	1.00[AMR][1000 genomes]
rs73451873	1.00[AMR][1000 genomes]
rs73451880	1.00[AMR][1000 genomes]
rs73451885	1.00[AMR][1000 genomes]
rs73451887	1.00[AMR][1000 genomes]
rs73451898	1.00[AMR][1000 genomes]
rs73451902	1.00[AMR][1000 genomes]
rs73454026	1.00[AMR][1000 genomes]
rs73454031	1.00[AMR][1000 genomes]
rs73454037	1.00[AMR][1000 genomes]
rs73454041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73454054	0.93[AFR][1000 genomes]
rs73454062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467964	1.00[AMR][1000 genomes]
rs73467966	1.00[AMR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46723600-46729600	Strong transcription	NHEK	skin
2	chr11:46723600-46730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:46723600-46730200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:46723600-46732000	Weak transcription	Fetal Heart	heart
5	chr11:46723600-46739800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:46723800-46729800	Strong transcription	Fetal Lung	lung
7	chr11:46723800-46733000	Strong transcription	Fetal Stomach	stomach
8	chr11:46724000-46729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:46724000-46729600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:46724000-46729600	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:46724000-46730000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:46724000-46730200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:46724000-46730200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:46724000-46731000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:46724200-46729600	Strong transcription	NHLF	lung
16	chr11:46724200-46730000	Strong transcription	Adipose Nuclei	Adipose
17	chr11:46724400-46729400	Strong transcription	Esophagus	oesophagus
18	chr11:46724400-46729600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:46724400-46729600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:46724400-46729600	Strong transcription	Aorta	Aorta
21	chr11:46724400-46729600	Strong transcription	Brain Angular Gyrus	brain
22	chr11:46724400-46729600	Strong transcription	Rectal Smooth Muscle	rectum
23	chr11:46724400-46729600	Strong transcription	Right Ventricle	heart
24	chr11:46724400-46729800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:46724400-46730000	Strong transcription	Fetal Brain Female	brain
26	chr11:46724400-46730200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:46724400-46730200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr11:46724400-46730200	Strong transcription	Osteobl	bone
29	chr11:46724400-46732200	Weak transcription	Right Atrium	heart
30	chr11:46724400-46733200	Strong transcription	Fetal Intestine Small	intestine
31	chr11:46724600-46729400	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr11:46724600-46729600	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:46724600-46730000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:46724600-46730400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:46724800-46729400	Strong transcription	Liver	Liver
36	chr11:46724800-46729600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:46724800-46729600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:46724800-46729600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:46724800-46729600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:46724800-46729600	Strong transcription	Brain Hippocampus Middle	brain
41	chr11:46724800-46729600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr11:46724800-46729600	Strong transcription	Pancreas	Pancrea
43	chr11:46724800-46729600	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:46724800-46729600	Strong transcription	Spleen	Spleen
45	chr11:46724800-46730000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:46724800-46730000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:46724800-46730000	Strong transcription	Fetal Thymus	thymus
48	chr11:46724800-46730000	Strong transcription	Gastric	stomach
49	chr11:46724800-46730200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:46724800-46730200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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