Variant report

Variant	esv3378365
Chromosome Location	chr9:110536981-110540654
allele	n/a
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	NR2F2	chr9:110540186-110540516	K562	blood:	n/a	n/a
2	NR2F2	chr9:110540153-110540493	K562	blood:	n/a	n/a
3	SP1	chr9:110540310-110540415	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110536599..110538792-chr9:110539392..110541157,4	MCF-7	breast:
2	chr9:110250527..110252695-chr9:110535045..110537861,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214645	TF binding region
ENSG00000214645	chromatin interactions
ENSG00000136826	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73518964	chr9:110537105-110537106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138995883	chr9:110537186-110537187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542809221	chr9:110537220-110537221	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574607558	chr9:110537246-110537247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116103849	chr9:110537285-110537286	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs10979042	chr9:110537474-110537475	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572063498	chr9:110537508-110537509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368834670	chr9:110537536-110537537	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372273690	chr9:110537538-110537539	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535546985	chr9:110537552-110537553	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs181766569	chr9:110537568-110537569	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187503001	chr9:110537571-110537572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs62569607	chr9:110537645-110537646	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs62569608	chr9:110537651-110537652	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7856979	chr9:110538050-110538051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546524662	chr9:110538161-110538162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs7857543	chr9:110538196-110538197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs9650729	chr9:110538236-110538237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs201116933	chr9:110538260-110538261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144246773	chr9:110538434-110538435	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs138902308	chr9:110538582-110538583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71457994	chr9:110539123-110539124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71457993	chr9:110539142-110539143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10081640	chr9:110539307-110539308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78105184	chr9:110539695-110539696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75017385	chr9:110539701-110539702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564629490	chr9:110540095-110540096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192080983	chr9:110540116-110540117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182821393	chr9:110540117-110540118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371320498	chr9:110540420-110540421	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs199833749	chr9:110540595-110540596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1928694	chr9:110540611-110540612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576640752	chr9:110540624-110540625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110518200-110544600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:110536200-110537000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr9:110536200-110537200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr9:110536600-110537000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr9:110536600-110546600	Weak transcription	Spleen	Spleen
6	chr9:110537000-110540800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:110537200-110542000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr9:110540600-110541600	Enhancers	Fetal Muscle Leg	muscle

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