Variant report

Variant	nsv411244
Chromosome Location	chr9:136753508-136753512
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:136744004..136756386-chr9:136850728..136860313,29	MCF-7	breast:
2	chr9:136742442..136743998-chr9:136752245..136754338,2	K562	blood:

Variant related genes	Relation type
ENSG00000160293	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 88 )

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	rs143973060	chr9:136753508-136753509	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs56068817	chr9:136753511-136753512	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr9:136729800-136762600	Weak transcription	Right Ventricle	heart
3	chr9:136736000-136760000	Weak transcription	Primary B cells from cord blood	blood
4	chr9:136736800-136756200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:136740000-136754800	Weak transcription	Osteobl	bone
6	chr9:136740200-136757400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:136744000-136755200	Enhancers	Fetal Muscle Leg	muscle
8	chr9:136745600-136754600	Weak transcription	Hela-S3	cervix
9	chr9:136745800-136755600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr9:136747200-136753600	Weak transcription	Stomach Mucosa	stomach
11	chr9:136747600-136753600	Weak transcription	NHLF	lung
12	chr9:136747600-136754800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:136747600-136780800	Weak transcription	Right Atrium	heart
14	chr9:136748200-136762200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr9:136748400-136758000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr9:136748800-136770600	Weak transcription	Esophagus	oesophagus
17	chr9:136749000-136753600	Weak transcription	HSMM	muscle
18	chr9:136749200-136756000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:136749600-136756000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:136749800-136756000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:136750000-136753800	Flanking Active TSS	HepG2	liver
22	chr9:136750000-136756200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:136750600-136754400	Weak transcription	HSMMtube	muscle
24	chr9:136750600-136755600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:136750800-136756400	Enhancers	Liver	Liver
26	chr9:136751000-136755400	Weak transcription	Spleen	Spleen
27	chr9:136751000-136756000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:136751200-136753800	Weak transcription	Gastric	stomach
29	chr9:136751200-136754400	Enhancers	Fetal Thymus	thymus
30	chr9:136751200-136755800	Genic enhancers	Fetal Intestine Small	intestine
31	chr9:136751200-136756000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:136751400-136753600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:136751400-136755600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:136751600-136755000	Enhancers	Fetal Intestine Large	intestine
35	chr9:136751600-136755400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:136751600-136755600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:136751600-136755600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:136751600-136755600	Enhancers	Fetal Brain Male	brain
39	chr9:136751600-136756000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:136751600-136756000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:136751600-136768200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr9:136751800-136754000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr9:136751800-136754400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:136752000-136753600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:136752000-136754000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr9:136752000-136755400	Enhancers	Brain Germinal Matrix	brain
47	chr9:136752000-136755400	Enhancers	Fetal Brain Female	brain
48	chr9:136752200-136755800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:136752200-136756000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr9:136752400-136753600	Weak transcription	GM12878-XiMat	blood

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