Variant report

Variant	rs55721562
Chromosome Location	chr11:8055371-8055372
allele	C/T
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	CTCF	chr11:8055360-8055510	GM12864	blood:	n/a	n/a
2	RAD21	chr11:8053952-8055503	SK-N-SH	brain:	n/a	chr11:8054888-8054902 chr11:8054891-8054900 chr11:8054887-8054906 chr11:8053954-8053967
3	CTCF	chr11:8055300-8055450	HAc	cerebellar:	n/a	n/a
4	SMC3	chr11:8054238-8055916	SK-N-SH	brain:	n/a	chr11:8054888-8054902
5	KAP1	chr11:8054776-8055376	HEK293	kidney:	n/a	n/a
6	CTCF	chr11:8055240-8055390	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr11:8054196-8055823	SK-N-SH	brain:	n/a	chr11:8054888-8054909 chr11:8054887-8054903 chr11:8054886-8054904

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8054442..8055441-chr11:8091763..8092397,3	K562	blood:
2	chr11:8050565..8052197-chr11:8055086..8058020,2	MCF-7	breast:

Variant related genes	Relation type
TUB	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10839968	0.95[EUR][1000 genomes]
rs12416828	1.00[EUR][1000 genomes]
rs1950008	1.00[EUR][1000 genomes]
rs56775092	0.82[EUR][1000 genomes]
rs6578920	0.93[EUR][1000 genomes]
rs7112892	0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8051600-8056000	Enhancers	Right Ventricle	heart
2	chr11:8052800-8055800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:8053000-8055400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:8054000-8055400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:8054000-8055800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr11:8054200-8055400	Bivalent Enhancer	Brain Hippocampus Middle	brain
7	chr11:8054200-8055400	Enhancers	Fetal Lung	lung
8	chr11:8054200-8055400	Enhancers	HSMM	muscle
9	chr11:8054200-8055600	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:8054200-8055600	Enhancers	Placenta	Placenta
11	chr11:8054200-8057800	Enhancers	Fetal Heart	heart
12	chr11:8054400-8055400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:8054400-8055400	Enhancers	Brain Substantia Nigra	brain
14	chr11:8054400-8055400	Enhancers	NHLF	lung
15	chr11:8054400-8056200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:8054400-8057200	Enhancers	Fetal Intestine Small	intestine
17	chr11:8054600-8055400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr11:8054600-8055400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:8054600-8055400	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:8054600-8055400	Enhancers	Right Atrium	heart
21	chr11:8054600-8055400	Enhancers	HSMMtube	muscle
22	chr11:8054600-8055400	Enhancers	NH-A	brain
23	chr11:8054600-8055800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:8054600-8056600	Enhancers	Brain Anterior Caudate	brain
25	chr11:8054600-8057000	Enhancers	Fetal Brain Female	brain
26	chr11:8054600-8057600	Enhancers	Fetal Brain Male	brain
27	chr11:8054600-8057600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:8054600-8057800	Enhancers	Fetal Intestine Large	intestine
29	chr11:8054600-8058000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr11:8054800-8055400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr11:8054800-8055400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:8054800-8055400	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:8054800-8055400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:8054800-8055400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:8054800-8055400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr11:8054800-8055600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:8054800-8055600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:8054800-8055600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr11:8054800-8055600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr11:8054800-8055800	Enhancers	Fetal Thymus	thymus
41	chr11:8054800-8057200	Enhancers	Brain Germinal Matrix	brain
42	chr11:8055000-8055400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:8055000-8055400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:8055000-8055400	Enhancers	Esophagus	oesophagus
45	chr11:8055000-8055400	Enhancers	Stomach Mucosa	stomach
46	chr11:8055000-8055600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr11:8055000-8056000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:8055000-8057400	Enhancers	Fetal Stomach	stomach
49	chr11:8055200-8055400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:8055200-8055400	Enhancers	Colon Smooth Muscle	Colon

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