Variant report

Variant	esv2218085
Chromosome Location	chr9:136931685-136931686
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:136930769..136932647-chr9:137027589..137030053,2	MCF-7	breast:
2	chr9:136855194..136860597-chr9:136929703..136933650,7	MCF-7	breast:
3	chr9:136904571..136907466-chr9:136931191..136933515,2	MCF-7	breast:
4	chr9:136888985..136892489-chr9:136929943..136933995,5	K562	blood:
5	chr9:136889408..136891837-chr9:136929869..136932804,3	MCF-7	breast:
6	chr9:136916641..136919642-chr9:136929650..136932820,3	K562	blood:
7	chr9:136914158..136916486-chr9:136930935..136932761,3	K562	blood:
8	chr9:136930118..136934023-chr9:136998387..137002829,10	K562	blood:
9	chr9:136931194..136934944-chr9:136998387..137002829,6	K562	blood:
10	chr9:136888457..136893834-chr9:136930854..136936517,11	MCF-7	breast:
11	chr9:136888954..136894255-chr9:136931474..136935040,9	K562	blood:
12	chr9:136928987..136935981-chr9:136998799..137005312,16	MCF-7	breast:
13	chr9:136930108..136935337-chr9:136999374..137002737,14	MCF-7	breast:
14	chr9:136930668..136932603-chr9:137271043..137272791,2	MCF-7	breast:
15	chr9:136907417..136909461-chr9:136930159..136932373,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000273249	chromatin interactions
ENSG00000235138	chromatin interactions
ENSG00000169925	chromatin interactions
ENSG00000196363	chromatin interactions
ENSG00000221676	chromatin interactions
ENSG00000263897	chromatin interactions
ENSG00000235106	chromatin interactions
ENSG00000160293	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 86 )

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	rs549885797	chr9:136931685-136931686	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs555293560	chr9:136931686-136931687	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136930000-136932200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr9:136930000-136932400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:136930400-136931800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:136930400-136932400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr9:136930600-136931800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr9:136930600-136931800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr9:136930600-136931800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr9:136930600-136931800	Flanking Active TSS	Fetal Brain Female	brain
9	chr9:136930600-136931800	Flanking Active TSS	Dnd41	blood
10	chr9:136930600-136931800	Flanking Active TSS	NH-A	brain
11	chr9:136930600-136932000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:136930600-136932000	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr9:136930600-136932000	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr9:136930600-136932000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr9:136930600-136932000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr9:136930600-136932000	Flanking Active TSS	HUVEC	blood vessel
17	chr9:136930600-136932000	Flanking Active TSS	Osteobl	bone
18	chr9:136930600-136932200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr9:136930600-136932200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:136930600-136932200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr9:136930600-136932200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr9:136930600-136932200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr9:136930600-136932200	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr9:136930600-136932200	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr9:136930600-136932200	Flanking Active TSS	Fetal Thymus	thymus
26	chr9:136930600-136932200	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr9:136930600-136932200	Flanking Active TSS	HMEC	breast
28	chr9:136930600-136932400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr9:136930600-136932400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr9:136930600-136932400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr9:136930600-136932400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:136930600-136932400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr9:136930600-136932400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:136930600-136932400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr9:136930600-136932400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr9:136930600-136932600	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr9:136930600-136932600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr9:136930600-136932600	Active TSS	Fetal Kidney	kidney
39	chr9:136930600-136934200	Active TSS	HSMMtube	muscle
40	chr9:136930600-136934200	Active TSS	NHLF	lung
41	chr9:136930800-136931800	Flanking Active TSS	Fetal Lung	lung
42	chr9:136930800-136932000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:136930800-136932000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr9:136930800-136932000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:136930800-136932000	Flanking Active TSS	Fetal Brain Male	brain
46	chr9:136930800-136932000	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr9:136930800-136932000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr9:136930800-136932000	Flanking Active TSS	Hela-S3	cervix
49	chr9:136930800-136932200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr9:136930800-136932200	Flanking Active TSS	Fetal Muscle Trunk	muscle

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