Variant report

Variant	rs73926574
Chromosome Location	chr2:46964253-46964254
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46923714..46925684-chr2:46963885..46966277,2	MCF-7	breast:
2	chr2:46954874..46956811-chr2:46963158..46965367,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10164807	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10172110	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10189994	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190001	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190187	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11125088	1.00[AMR][1000 genomes]
rs13399271	0.82[AFR][1000 genomes]
rs13399713	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402553	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418951	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28702871	1.00[AMR][1000 genomes]
rs41409850	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41483445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55817465	0.91[AFR][1000 genomes]
rs6711782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6714964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6759784	1.00[AMR][1000 genomes]
rs6760403	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73926585	1.00[AMR][1000 genomes]
rs7566758	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7573534	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9807932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808073	1.00[AMR][1000 genomes]
rs9808427	1.00[AMR][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS 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 target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:46947600-46975600	Weak transcription	HSMM	muscle
3	chr2:46948200-46964400	Weak transcription	NHEK	skin
4	chr2:46948200-46967400	Weak transcription	Esophagus	oesophagus
5	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
7	chr2:46948600-46964400	Weak transcription	NH-A	brain
8	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
9	chr2:46950800-46975400	Weak transcription	Fetal Lung	lung
10	chr2:46953400-46964400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:46955000-46975400	Weak transcription	Small Intestine	intestine
12	chr2:46955200-46964600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:46955200-46967600	Weak transcription	Thymus	Thymus
14	chr2:46955200-46970400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:46955200-46974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:46955200-46984800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr2:46955200-46985400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:46955400-46967600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:46955400-46967800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:46955400-46967800	Weak transcription	Fetal Thymus	thymus
21	chr2:46955400-46974200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:46956000-46975400	Weak transcription	Lung	lung
23	chr2:46956000-46980000	Weak transcription	Right Atrium	heart
24	chr2:46957400-46973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:46958000-46964600	Weak transcription	HMEC	breast
26	chr2:46959600-46967000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:46959600-46967200	Weak transcription	Ovary	ovary
28	chr2:46959600-46975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:46959800-46969000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:46960000-46964400	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:46960000-46978800	Weak transcription	Primary T cells from cord blood	blood
32	chr2:46960000-46988000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:46960800-46965800	Enhancers	HepG2	liver
34	chr2:46961800-46965000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:46962000-46982000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:46962200-46968800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:46962400-46964600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:46962400-46965800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:46962600-46964600	Weak transcription	Liver	Liver
40	chr2:46962600-46964800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:46962600-46967800	Weak transcription	Gastric	stomach
42	chr2:46962600-46969000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:46962800-46964400	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:46962800-46964400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:46962800-46964600	Weak transcription	Fetal Heart	heart
46	chr2:46962800-46964600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:46963000-46964800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:46963000-46964800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:46963400-46964800	Weak transcription	Psoas Muscle	Psoas
50	chr2:46963400-46965200	Weak transcription	Right Ventricle	heart

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