Variant report

Variant	rs551443886
Chromosome Location	chr11:63378519-63378520
allele	A/C
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	ZNF263	chr11:63377921-63378711	HEK293-T-REx	kidney:	n/a	chr11:63378293-63378314
2	KAP1	chr11:63378159-63379083	U2OS	brain:	n/a	n/a
3	HDAC2	chr11:63378222-63378602	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:63378400-63378550	GM12866	blood:	n/a	chr11:63378444-63378457 chr11:63378434-63378447
5	CEBPB	chr11:63378352-63378775	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:63378383-63378551	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF7L2	chr11:63378347-63378919	HEK293	kidney:	n/a	n/a
8	SIN3A	chr11:63378312-63378562	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr11:63378096-63378554	H1-hESC	embryonic stem cell:	n/a	chr11:63378319-63378332 chr11:63378314-63378336 chr11:63378318-63378332 chr11:63378318-63378333 chr11:63378319-63378332 chr11:63378320-63378331 chr11:63378320-63378330 chr11:63378319-63378332
10	FOXP2	chr11:63378243-63378576	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63376691..63378525-chr11:63379953..63383001,3	K562	blood:
2	chr11:63369471..63371233-chr11:63378331..63380556,2	MCF-7	breast:

Variant related genes	Relation type
PLA2G16	TF binding region
ENSG00000176485	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	esv32927	chr11:63377277-63387923	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63356800-63381000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:63357600-63380400	Weak transcription	NHLF	lung
3	chr11:63371000-63380400	Weak transcription	Aorta	Aorta
4	chr11:63374600-63380200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:63374800-63380400	Weak transcription	K562	blood
6	chr11:63375000-63378600	Enhancers	NH-A	brain
7	chr11:63375800-63378800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:63375800-63380200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:63375800-63380400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:63376200-63378600	Enhancers	Small Intestine	intestine
11	chr11:63376200-63378600	Enhancers	Stomach Mucosa	stomach
12	chr11:63376200-63379200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:63376400-63378600	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr11:63376400-63379400	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr11:63376600-63379400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:63376800-63378600	Enhancers	Fetal Muscle Leg	muscle
17	chr11:63376800-63378600	Enhancers	Left Ventricle	heart
18	chr11:63376800-63378600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr11:63376800-63378800	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:63376800-63380400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:63376800-63380400	Enhancers	A549	lung
22	chr11:63377000-63378600	Enhancers	Right Atrium	heart
23	chr11:63377000-63379200	Enhancers	Hela-S3	cervix
24	chr11:63377000-63380400	Weak transcription	Fetal Kidney	kidney
25	chr11:63377200-63380400	Weak transcription	GM12878-XiMat	blood
26	chr11:63377400-63378800	Enhancers	Colon Smooth Muscle	Colon
27	chr11:63377400-63379200	Enhancers	HepG2	liver
28	chr11:63377400-63379600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:63377400-63380400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr11:63377600-63378600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:63377600-63378800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:63377600-63379000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr11:63377600-63379200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr11:63377600-63379200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:63377600-63379400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:63377800-63378600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr11:63377800-63378600	Flanking Active TSS	Osteobl	bone
38	chr11:63377800-63378800	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr11:63377800-63379000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:63377800-63379000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:63377800-63379000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:63377800-63379000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:63377800-63380400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:63377800-63380400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:63377800-63380400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:63377800-63381000	Weak transcription	Esophagus	oesophagus
47	chr11:63378000-63378600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:63378000-63378600	Flanking Active TSS	HUVEC	blood vessel
49	chr11:63378000-63378600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr11:63378000-63379000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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