Variant report

Variant	rs543672407
Chromosome Location	chr9:116811139-116811140
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	chr9:116638359..116640217-chr9:116810086..116811628,2	MCF-7	breast:
2	chr9:116810230..116814286-chr9:116816230..116818443,3	K562	blood:

Variant related genes	Relation type
ENSG00000157657	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	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv466514	chr9:116810890-116867054	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv615222	chr9:116810890-116867054	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking 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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:116785200-116811200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:116787000-116812800	Weak transcription	Primary B cells from cord blood	blood
4	chr9:116793200-116811200	Weak transcription	Stomach Mucosa	stomach
5	chr9:116793200-116812200	Weak transcription	K562	blood
6	chr9:116793200-116813800	Weak transcription	NHEK	skin
7	chr9:116795200-116821800	Weak transcription	Right Atrium	heart
8	chr9:116796200-116815800	Weak transcription	Small Intestine	intestine
9	chr9:116799000-116811200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr9:116799200-116811200	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:116800000-116811200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:116800000-116811200	Weak transcription	Brain Substantia Nigra	brain
13	chr9:116800000-116811200	Weak transcription	Right Ventricle	heart
14	chr9:116800800-116811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:116801000-116811200	Weak transcription	Left Ventricle	heart
16	chr9:116801000-116812000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:116804400-116816400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:116805800-116813400	Weak transcription	Fetal Brain Male	brain
19	chr9:116806200-116811200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:116807400-116814400	Strong transcription	Fetal Lung	lung
21	chr9:116807600-116817200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr9:116807800-116815200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:116807800-116816200	Strong transcription	Liver	Liver
24	chr9:116808400-116816600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:116808600-116811200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:116808600-116817600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:116808800-116812400	Strong transcription	HSMM	muscle
28	chr9:116809200-116814400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:116809400-116816200	Strong transcription	HUVEC	blood vessel
30	chr9:116809400-116818800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:116809800-116811400	Strong transcription	Fetal Kidney	kidney
32	chr9:116809800-116814600	Strong transcription	A549	lung
33	chr9:116809800-116815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr9:116809800-116815000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr9:116809800-116815000	Strong transcription	Ovary	ovary
36	chr9:116809800-116815000	Strong transcription	NHLF	lung
37	chr9:116809800-116816400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:116809800-116817600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:116809800-116821600	Strong transcription	Fetal Stomach	stomach
40	chr9:116809800-116822000	Strong transcription	Fetal Intestine Small	intestine
41	chr9:116810000-116811200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:116810000-116811600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr9:116810000-116812200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr9:116810000-116813000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:116810000-116813000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr9:116810000-116813800	Strong transcription	Aorta	Aorta
47	chr9:116810000-116813800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:116810000-116814200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:116810000-116815400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr9:116810000-116816200	Strong transcription	Adipose Nuclei	Adipose

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