Variant report

Variant	esv3400696
Chromosome Location	chr9:22759352-22763550
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	MAFK	chr9:22763062-22763162	IMR90	lung:	n/a	n/a
2	SPI1	chr9:22759405-22759552	GM12878	blood:	n/a	n/a
3	SPI1	chr9:22759401-22759579	GM12891	blood:	n/a	n/a
4	SPI1	chr9:22759320-22759583	GM12891	blood:	n/a	n/a
5	SPI1	chr9:22759413-22759537	K562	blood:	n/a	n/a
6	SPI1	chr9:22759423-22759532	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTA1-14	chr9:22759737-22759837	NONHSAT130447

Variant related genes	Relation type
ENSG00000224549	TF binding region

Extended variants
information (count: 282 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9695226	chr9:22759396-22759397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs842851	chr9:22759433-22759434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs189952039	chr9:22759452-22759453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200588339	chr9:22759497-22759498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201577111	chr9:22759502-22759503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535995548	chr9:22759510-22759511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181217338	chr9:22759515-22759516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575697911	chr9:22759520-22759521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544627028	chr9:22759528-22759529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199514689	chr9:22759542-22759543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138839587	chr9:22759558-22759559	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs184975725	chr9:22759561-22759562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201947246	chr9:22759585-22759586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200071445	chr9:22759598-22759599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541704323	chr9:22759602-22759603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561372378	chr9:22759603-22759604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201372424	chr9:22759612-22759613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530318157	chr9:22759641-22759642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543989770	chr9:22759736-22759737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563785454	chr9:22759763-22759764	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs532622280	chr9:22759779-22759780	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs552316190	chr9:22759783-22759784	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs566048125	chr9:22759785-22759786	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs375678640	chr9:22759786-22759787	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs527629333	chr9:22759799-22759800	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs535423837	chr9:22759800-22759801	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs567183236	chr9:22759825-22759826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs201671259	chr9:22759846-22759847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148768924	chr9:22759848-22759849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569442438	chr9:22759850-22759851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538332920	chr9:22759882-22759883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150675157	chr9:22759895-22759896	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs201094071	chr9:22759906-22759907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146388762	chr9:22759907-22759908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190850506	chr9:22759915-22759916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539500603	chr9:22759918-22759919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200598953	chr9:22759922-22759923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544050348	chr9:22759939-22759940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557908025	chr9:22759973-22759974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534212915	chr9:22759985-22759986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372217534	chr9:22759986-22759987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184005077	chr9:22759992-22759993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577448161	chr9:22759993-22759994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188900392	chr9:22759995-22759996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200987674	chr9:22760007-22760008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546269051	chr9:22760008-22760009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202201923	chr9:22760019-22760020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112591729	chr9:22760034-22760035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35881086	chr9:22760039-22760040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs201229259	chr9:22760045-22760046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:149)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21525872	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22725800-22801600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:22738800-22778800	Weak transcription	Liver	Liver

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