Variant report

Variant	rs73906489
Chromosome Location	chr21:44615787-44615788
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	chr21:44615544..44618230-chr21:44624963..44626932,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28718858	1.00[EUR][1000 genomes]
rs59325549	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73374272	1.00[EUR][1000 genomes]
rs73376213	1.00[EUR][1000 genomes]
rs73376237	1.00[EUR][1000 genomes]
rs73376238	1.00[EUR][1000 genomes]
rs73376241	1.00[EUR][1000 genomes]
rs73906468	1.00[EUR][1000 genomes]
rs73906487	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906488	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906491	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906499	1.00[EUR][1000 genomes]
rs73909413	1.00[EUR][1000 genomes]
rs9976127	1.00[EUR][1000 genomes]
rs9978735	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913812	chr21:44213057-44686358	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1067412	chr21:44526656-44772130	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1060276	chr21:44550394-44628579	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv913832	chr21:44579105-44768562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44609200-44617600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr21:44612600-44616000	Enhancers	Fetal Thymus	thymus
3	chr21:44612800-44616200	Weak transcription	Fetal Brain Female	brain
4	chr21:44613200-44617000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:44613200-44617800	Enhancers	Fetal Muscle Leg	muscle
6	chr21:44613400-44616800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:44613400-44616800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr21:44613400-44616800	Enhancers	NHEK	skin
9	chr21:44613400-44618000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:44613600-44616000	Enhancers	Fetal Lung	lung
11	chr21:44613600-44616000	Enhancers	NHDF-Ad	bronchial
12	chr21:44613600-44616400	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr21:44613600-44616400	Enhancers	Right Ventricle	heart
14	chr21:44613600-44618000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:44613800-44615800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr21:44613800-44616000	Enhancers	NHLF	lung
17	chr21:44613800-44616200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:44613800-44616800	Enhancers	Left Ventricle	heart
19	chr21:44613800-44617600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:44613800-44617600	Enhancers	HSMMtube	muscle
21	chr21:44613800-44618200	Enhancers	Placenta	Placenta
22	chr21:44614000-44616200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr21:44614200-44615800	Weak transcription	Brain Germinal Matrix	brain
24	chr21:44614200-44615800	Enhancers	Spleen	Spleen
25	chr21:44614200-44617800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:44614600-44616000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:44614600-44616400	Flanking Active TSS	HSMM	muscle
28	chr21:44614800-44615800	Weak transcription	Brain Substantia Nigra	brain
29	chr21:44614800-44616000	Enhancers	Right Atrium	heart
30	chr21:44614800-44616600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr21:44614800-44617200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr21:44615000-44617200	Enhancers	Fetal Stomach	stomach
33	chr21:44615000-44617400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
34	chr21:44615200-44616000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr21:44615400-44616200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:44615400-44616200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:44615400-44616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:44615400-44616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:44615400-44616800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr21:44615400-44617200	Enhancers	HMEC	breast
41	chr21:44615600-44616400	Weak transcription	Colonic Mucosa	Colon
42	chr21:44615600-44616400	Weak transcription	Esophagus	oesophagus
43	chr21:44615600-44616600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr21:44615600-44616800	Weak transcription	Ovary	ovary
45	chr21:44615600-44616800	Enhancers	Hela-S3	cervix
46	chr21:44615600-44617000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:44615600-44617600	Enhancers	HepG2	liver
48	chr21:44615600-44617800	Enhancers	Muscle Satellite Cultured Cells	--

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