Variant report

Variant	rs529945954
Chromosome Location	chr11:66884671-66884672
allele	G/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	JUN	chr11:66884560-66884846	H1-hESC	embryonic stem cell:	n/a	chr11:66884659-66884671
2	GATA3	chr11:66884406-66884700	SH-SY5Y	brain:	n/a	chr11:66884569-66884576

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66883623..66889678-chr11:67005085..67009894,16	K562	blood:
2	chr11:66847793..66850553-chr11:66883657..66886437,2	MCF-7	breast:

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173120	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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' 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	48 gene(s)	inside rSNPs	diseases
3	esv3412807	chr11:66884326-66888124	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3397435	chr11:66884601-66887149	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 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	chr11:66879000-66885200	Weak transcription	Right Ventricle	heart
2	chr11:66879200-66885000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:66879200-66885000	Weak transcription	Right Atrium	heart
4	chr11:66879200-66885200	Weak transcription	Left Ventricle	heart
5	chr11:66879400-66884800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:66879400-66884800	Weak transcription	Adipose Nuclei	Adipose
7	chr11:66879400-66885000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:66879600-66884800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:66879600-66884800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:66879600-66884800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:66879600-66885000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:66880400-66885000	Enhancers	Fetal Intestine Small	intestine
13	chr11:66880600-66885000	Enhancers	Fetal Intestine Large	intestine
14	chr11:66881000-66886800	Weak transcription	K562	blood
15	chr11:66881200-66884800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:66881200-66884800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:66881200-66885000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:66881200-66885000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:66881200-66885000	Weak transcription	Esophagus	oesophagus
20	chr11:66881200-66885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:66881200-66885200	Weak transcription	Dnd41	blood
22	chr11:66881400-66885000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:66881600-66884800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:66881800-66884800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:66881800-66885000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:66882000-66885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:66882200-66885000	Weak transcription	Colonic Mucosa	Colon
28	chr11:66882600-66884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:66882600-66885200	Enhancers	A549	lung
30	chr11:66882800-66885000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:66882800-66885000	Enhancers	Stomach Mucosa	stomach
32	chr11:66883000-66884800	Weak transcription	Liver	Liver
33	chr11:66883200-66885000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:66883400-66884800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:66883400-66885000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:66883600-66884800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr11:66883600-66884800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:66883600-66884800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:66883600-66885000	Enhancers	Brain Hippocampus Middle	brain
40	chr11:66883600-66885000	Enhancers	Fetal Lung	lung
41	chr11:66883600-66885000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:66883600-66885000	Weak transcription	GM12878-XiMat	blood
43	chr11:66883600-66885200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:66883600-66886000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:66883800-66884800	Weak transcription	Primary B cells from cord blood	blood
46	chr11:66883800-66884800	Weak transcription	Brain Anterior Caudate	brain
47	chr11:66883800-66884800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:66883800-66885000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:66884000-66885200	Enhancers	Fetal Stomach	stomach
50	chr11:66884200-66884800	Enhancers	H9 Cell Line	embryonic stem cell

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