Variant report

Variant	rs545916
Chromosome Location	chr11:64154022-64154023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64132740..64134485-chr11:64152272..64154875,2	MCF-7	breast:
2	chr11:64039098..64041070-chr11:64153446..64155407,2	K562	blood:
3	chr11:64151479..64154106-chr11:64156767..64158653,2	K562	blood:
4	chr11:64125281..64129339-chr11:64152102..64154169,4	K562	blood:
5	chr11:64153349..64156016-chr11:64157804..64160617,2	K562	blood:

Variant related genes	Relation type
ENSG00000162302	Chromatin interaction
ENSG00000002330	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1199175	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1318165	0.83[AMR][1000 genomes]
rs477909	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs483515	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs484384	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs488760	0.83[AMR][1000 genomes]
rs494403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs499455	0.91[AFR][1000 genomes]
rs512372	0.83[AMR][1000 genomes]
rs513264	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs523525	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550819	0.83[AMR][1000 genomes]
rs558105	0.83[AMR][1000 genomes]
rs558864	0.83[AMR][1000 genomes]
rs564687	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565221	0.83[AMR][1000 genomes]
rs566049	0.83[AMR][1000 genomes]
rs571379	0.83[AMR][1000 genomes]
rs590103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601845	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614047	0.83[AMR][1000 genomes]
rs632654	0.83[AMR][1000 genomes]
rs648220	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs649463	1.00[AMR][1000 genomes]
rs652611	0.83[AMR][1000 genomes]
rs676931	0.83[AMR][1000 genomes]
rs681797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7941847	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
2	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
4	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64134400-64158400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:64141200-64162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:64147800-64162200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:64150600-64163000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64151000-64155200	Enhancers	Placenta	Placenta
6	chr11:64151200-64154200	Enhancers	Fetal Heart	heart
7	chr11:64151600-64155200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:64152400-64154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:64152400-64154600	Enhancers	Fetal Thymus	thymus
10	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:64152600-64154600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:64152800-64154200	Enhancers	Primary B cells from cord blood	blood
14	chr11:64152800-64154400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:64152800-64155000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr11:64153000-64154200	Enhancers	Primary B cells from peripheral blood	blood
17	chr11:64153200-64154200	Bivalent Enhancer	K562	blood
18	chr11:64153200-64155000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:64153400-64154600	Enhancers	NH-A	brain
20	chr11:64153600-64154200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:64153600-64154800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:64153600-64154800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:64153600-64155000	Enhancers	HMEC	breast
24	chr11:64153600-64158200	Weak transcription	Spleen	Spleen
25	chr11:64153600-64158800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:64153600-64159000	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:64153800-64154200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:64153800-64154200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:64153800-64154600	Enhancers	Primary T cells from cord blood	blood
30	chr11:64153800-64155600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:64153800-64159000	Weak transcription	Right Ventricle	heart
32	chr11:64153800-64163200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:64154000-64154200	Bivalent Enhancer	NHDF-Ad	bronchial
34	chr11:64154000-64155000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr11:64154000-64158200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:64154000-64167600	Weak transcription	Right Atrium	heart

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