Variant report

Variant	esv3481525
Chromosome Location	chr9:17908052-17913550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552556437	chr9:17908059-17908060	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs192162852	chr9:17908108-17908109	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs573151954	chr9:17908111-17908112	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536992177	chr9:17908129-17908130	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs148056747	chr9:17908179-17908180	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs578096859	chr9:17908256-17908257	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs80297842	chr9:17908260-17908261	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs73414823	chr9:17908290-17908291	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568751895	chr9:17908293-17908294	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs141770725	chr9:17908295-17908296	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs183096909	chr9:17908329-17908330	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs561366254	chr9:17908340-17908341	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs531927040	chr9:17908358-17908359	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs543732899	chr9:17908384-17908385	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs565219850	chr9:17908429-17908430	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532631438	chr9:17908433-17908434	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs73414824	chr9:17908443-17908444	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs72695907	chr9:17908444-17908445	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs541822002	chr9:17908458-17908459	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79936759	chr9:17908471-17908472	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201248567	chr9:17908490-17908491	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201879617	chr9:17908520-17908521	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529760958	chr9:17908545-17908546	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs373377320	chr9:17908548-17908549	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548264994	chr9:17908557-17908558	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569779360	chr9:17908581-17908582	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17905400-17908200	Active TSS	Aorta	Aorta
2	chr9:17905400-17908400	Active TSS	Colon Smooth Muscle	Colon
3	chr9:17905800-17908200	Active TSS	Right Atrium	heart
4	chr9:17905800-17908200	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr9:17905800-17908200	Bivalent/Poised TSS	Small Intestine	intestine
6	chr9:17906400-17908200	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr9:17906600-17908200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
8	chr9:17907600-17908200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
9	chr9:17907600-17908400	Active TSS	Colonic Mucosa	Colon
10	chr9:17907600-17908600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
11	chr9:17908000-17908200	Active TSS	Stomach Smooth Muscle	stomach
12	chr9:17908000-17908400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr9:17908200-17908400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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