Variant report

Variant	rs566399171
Chromosome Location	chr11:102219658-102219659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr11:102216324-102220503	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:102219572-102219722	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr11:102219602-102222092	K562	blood:	n/a	n/a
4	FOXA2	chr11:102219450-102220415	HepG2	liver:	n/a	chr11:102219978-102219990
5	FOXA1	chr11:102219554-102220164	HepG2	liver:	n/a	chr11:102219789-102219804 chr11:102219978-102219990
6	FOXA1	chr11:102219564-102220204	HepG2	liver:	n/a	chr11:102219789-102219804 chr11:102219978-102219990

No.	Distal block	Cell Line	Cell type
1	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
2	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:
3	chr11:102187104..102190463-chr11:102217868..102220185,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BIRC2-1	chr11:102219329-102219744	NONHSAT023879

Variant related genes	Relation type
BIRC2	TF binding region
ENSG00000152558	Chromatin interaction
ENSG00000255337	Chromatin interaction
ENSG00000023445	Chromatin interaction
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
7	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1839485	chr11:102207851-102220279	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv975369	chr11:102219075-102221776	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102216600-102219800	Active TSS	NHDF-Ad	bronchial
2	chr11:102216600-102220000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:102216600-102220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:102216600-102220600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr11:102216800-102220000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:102216800-102220000	Active TSS	Right Atrium	heart
7	chr11:102217000-102219800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:102217000-102219800	Active TSS	Fetal Thymus	thymus
9	chr11:102217000-102220000	Active TSS	Thymus	Thymus
10	chr11:102217000-102221600	Active TSS	GM12878-XiMat	blood
11	chr11:102217400-102219800	Active TSS	NH-A	brain
12	chr11:102218600-102219800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:102218600-102220000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:102218600-102220200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:102218800-102219800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:102218800-102219800	Flanking Active TSS	Dnd41	blood
17	chr11:102218800-102219800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr11:102218800-102220000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:102218800-102220000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr11:102218800-102231600	Weak transcription	Spleen	Spleen
21	chr11:102219000-102220000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr11:102219000-102221200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:102219000-102231600	Weak transcription	Gastric	stomach
24	chr11:102219000-102231800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:102219200-102219800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr11:102219200-102219800	Weak transcription	Aorta	Aorta
27	chr11:102219200-102219800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:102219200-102219800	Enhancers	Fetal Brain Male	brain
29	chr11:102219200-102219800	Weak transcription	Fetal Lung	lung
30	chr11:102219200-102219800	Weak transcription	Small Intestine	intestine
31	chr11:102219200-102220000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:102219200-102220000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:102219200-102220000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:102219200-102220000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr11:102219200-102220000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:102219200-102220000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr11:102219200-102220000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr11:102219200-102220000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:102219200-102220000	Enhancers	Stomach Mucosa	stomach
40	chr11:102219200-102220000	Enhancers	Hela-S3	cervix
41	chr11:102219200-102220200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:102219200-102220400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:102219200-102220600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr11:102219200-102220600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:102219200-102220600	Weak transcription	Placenta	Placenta
46	chr11:102219200-102220600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:102219200-102220800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr11:102219200-102220800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:102219200-102220800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:102219200-102220800	Weak transcription	Fetal Muscle Trunk	muscle

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