Variant report

Variant	rs2186412
Chromosome Location	chr11:59396589-59396590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59396061..59398307-chr11:59402162..59404297,2	K562	blood:
2	chr11:59382222..59385204-chr11:59394078..59396704,2	K562	blood:

Variant related genes	Relation type
ENSG00000110048	Chromatin interaction
ENSG00000255139	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv1797571	chr11:59383323-59424688	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers 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
2	esv1797737	chr11:59383323-59424688	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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
3	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv832172	chr11:59396407-59431115	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59384400-59396600	Weak transcription	Fetal Thymus	thymus
2	chr11:59384400-59396800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr11:59384400-59397400	Weak transcription	Adipose Nuclei	Adipose
4	chr11:59384400-59402600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:59384400-59404400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:59384800-59396800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:59384800-59396800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:59384800-59397000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:59384800-59397200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:59384800-59397200	Weak transcription	Liver	Liver
11	chr11:59384800-59402600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:59384800-59402800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:59384800-59404600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:59384800-59404800	Weak transcription	Brain Angular Gyrus	brain
15	chr11:59385000-59396600	Weak transcription	Primary T cells from cord blood	blood
16	chr11:59385000-59404400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:59385000-59404800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:59385400-59402800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:59385400-59402800	Weak transcription	Dnd41	blood
20	chr11:59385400-59403000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:59385400-59404200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:59385600-59403000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:59386600-59402800	Weak transcription	Placenta	Placenta
24	chr11:59390800-59397200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:59391200-59397400	Weak transcription	A549	lung
26	chr11:59391200-59402400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:59391600-59397000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:59391800-59402200	Weak transcription	Primary B cells from cord blood	blood
29	chr11:59392000-59402600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:59392200-59397200	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:59392200-59397200	Weak transcription	Osteobl	bone
32	chr11:59392400-59403600	Weak transcription	NHDF-Ad	bronchial
33	chr11:59392800-59402800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:59392800-59403000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr11:59392800-59403200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:59393000-59396600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:59393000-59402800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr11:59393200-59402600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:59393200-59402600	Weak transcription	NHEK	skin
40	chr11:59393200-59404200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:59393400-59402600	Weak transcription	Spleen	Spleen
42	chr11:59393400-59402800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:59393400-59403400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:59393600-59397000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr11:59393600-59397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:59393600-59402600	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:59393600-59402800	Weak transcription	Fetal Intestine Large	intestine
48	chr11:59393600-59403200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:59393600-59403400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:59393600-59403600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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