Variant report

Variant	esv3435005
Chromosome Location	chr9:16465302-16468300
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	CEBPB	chr9:16465359-16465508	A549	lung:	n/a	chr9:16465385-16465396
2	CEBPB	chr9:16465219-16465489	HepG2	liver:	n/a	chr9:16465385-16465396
3	CEBPB	chr9:16465340-16465409	IMR90	lung:	n/a	chr9:16465385-16465396
4	CEBPB	chr9:16465363-16465516	H1-hESC	embryonic stem cell:	n/a	chr9:16465385-16465396
5	SPI1	chr9:16465710-16465966	GM12878	blood:	n/a	n/a
6	SPI1	chr9:16465773-16465934	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000231756	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201366013	chr9:16465307-16465308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562019617	chr9:16465317-16465318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184543123	chr9:16465328-16465329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13284663	chr9:16465337-16465338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189489169	chr9:16465354-16465355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551586589	chr9:16465355-16465356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566706781	chr9:16465357-16465358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530592219	chr9:16465371-16465372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79983037	chr9:16465390-16465391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544729436	chr9:16465412-16465413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565299794	chr9:16465430-16465431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530327240	chr9:16465432-16465433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368002179	chr9:16465433-16465434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34834563	chr9:16465450-16465451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12340350	chr9:16465452-16465453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113791555	chr9:16465460-16465461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377477660	chr9:16465462-16465463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12000878	chr9:16465467-16465468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537811945	chr9:16465495-16465496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180679467	chr9:16465526-16465527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201237760	chr9:16465534-16465535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184775440	chr9:16465557-16465558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578072925	chr9:16465567-16465568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144142353	chr9:16465603-16465604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189192001	chr9:16465613-16465614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181640393	chr9:16465640-16465641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148678646	chr9:16465660-16465661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80092004	chr9:16465676-16465677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530891920	chr9:16465695-16465696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573868710	chr9:16465725-16465726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185771488	chr9:16465753-16465754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562481340	chr9:16465754-16465755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144212077	chr9:16465829-16465830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375041209	chr9:16465837-16465838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563951839	chr9:16465858-16465859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35349138	chr9:16465892-16465893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111487662	chr9:16465911-16465912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560336860	chr9:16465934-16465935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60663968	chr9:16466000-16466001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs56148125	chr9:16466002-16466003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529547908	chr9:16466035-16466036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546759881	chr9:16466038-16466039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370385609	chr9:16466041-16466042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527833758	chr9:16466078-16466079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549660891	chr9:16466122-16466123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61391155	chr9:16466173-16466174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567905668	chr9:16466188-16466189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543261549	chr9:16466202-16466203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201128726	chr9:16466266-16466267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10810566	chr9:16466409-16466410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16457800-16493400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:16458000-16470400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:16459600-16470800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:16459600-16482400	Weak transcription	A549	lung
5	chr9:16459600-16499800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:16459600-16500000	Weak transcription	NHLF	lung
7	chr9:16460800-16485400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:16462000-16470600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:16462000-16476400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:16462200-16470400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:16462200-16474000	Weak transcription	Fetal Lung	lung
12	chr9:16463200-16468400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:16463200-16470600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr9:16463200-16478000	Weak transcription	Ovary	ovary
15	chr9:16463200-16483800	Weak transcription	Fetal Stomach	stomach
16	chr9:16464000-16470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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