Variant report

Variant	esv1834674
Chromosome Location	chr9:17880109-17951331
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2302 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2302 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10963315	chr9:17880109-17880110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185457740	chr9:17880131-17880132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568753676	chr9:17880166-17880167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564746128	chr9:17880168-17880169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78998801	chr9:17880174-17880175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540736016	chr9:17880227-17880228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116038833	chr9:17880233-17880234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555688892	chr9:17880246-17880247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529884731	chr9:17880273-17880274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547971413	chr9:17880278-17880279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74746960	chr9:17880338-17880339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530695046	chr9:17880372-17880373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115756901	chr9:17880374-17880375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528648986	chr9:17880402-17880403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553169980	chr9:17880407-17880408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538996609	chr9:17880433-17880434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73428590	chr9:17880465-17880466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566177173	chr9:17880477-17880478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190335613	chr9:17880489-17880490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149660402	chr9:17880500-17880501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374127659	chr9:17880522-17880523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114713875	chr9:17880537-17880538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543772149	chr9:17880576-17880577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557585569	chr9:17880593-17880594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150214946	chr9:17880611-17880612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563122951	chr9:17880647-17880648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182506558	chr9:17880667-17880668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530569423	chr9:17880676-17880677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559061991	chr9:17880681-17880682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529726565	chr9:17880697-17880698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116600482	chr9:17880708-17880709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563359236	chr9:17880709-17880710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184780765	chr9:17880721-17880722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145477120	chr9:17880724-17880725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188017338	chr9:17880725-17880726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180880475	chr9:17880751-17880752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139827272	chr9:17880752-17880753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372667260	chr9:17880753-17880754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555515167	chr9:17880754-17880755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377319135	chr9:17880756-17880757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114775632	chr9:17880769-17880770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185276344	chr9:17880794-17880795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574060309	chr9:17880823-17880824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148406352	chr9:17880827-17880828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370900749	chr9:17880828-17880829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544428869	chr9:17880859-17880860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555010753	chr9:17880909-17880910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10963317	chr9:17880914-17880915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs112812000	chr9:17880924-17880925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144900486	chr9:17880939-17880940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17876200-17881400	Weak transcription	Aorta	Aorta
2	chr9:17881400-17881600	Enhancers	Aorta	Aorta
3	chr9:17882800-17883600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:17888000-17889000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:17888200-17889000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:17888800-17889400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:17892600-17892800	Enhancers	Fetal Lung	lung
8	chr9:17892800-17893000	Enhancers	Aorta	Aorta
9	chr9:17893000-17894000	Weak transcription	Fetal Lung	lung
10	chr9:17893400-17894600	Enhancers	Hela-S3	cervix
11	chr9:17893600-17894600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr9:17893800-17894000	Enhancers	Right Atrium	heart
13	chr9:17894000-17894600	Active TSS	Aorta	Aorta
14	chr9:17894000-17895600	Enhancers	Fetal Lung	lung
15	chr9:17894400-17894800	Enhancers	Fetal Heart	heart
16	chr9:17894600-17895000	Enhancers	Aorta	Aorta
17	chr9:17894600-17895000	Flanking Active TSS	Hela-S3	cervix
18	chr9:17895000-17895800	Enhancers	Hela-S3	cervix
19	chr9:17895800-17899600	Weak transcription	Hela-S3	cervix
20	chr9:17897000-17897400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:17899600-17902800	Enhancers	Hela-S3	cervix
22	chr9:17900800-17901000	Enhancers	Fetal Brain Male	brain
23	chr9:17900800-17901000	Enhancers	Fetal Muscle Leg	muscle
24	chr9:17903600-17903800	Enhancers	Pancreas	Pancrea
25	chr9:17904000-17904200	Enhancers	Aorta	Aorta
26	chr9:17904200-17905200	Weak transcription	Aorta	Aorta
27	chr9:17904800-17905200	Bivalent Enhancer	Fetal Brain Male	brain
28	chr9:17905000-17905600	Bivalent Enhancer	Brain Germinal Matrix	brain
29	chr9:17905200-17905400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr9:17905200-17905400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr9:17905200-17905400	Enhancers	Aorta	Aorta
32	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
33	chr9:17905200-17905400	Bivalent Enhancer	Fetal Brain Female	brain
34	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Heart	heart
35	chr9:17905200-17905400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
36	chr9:17905200-17905400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr9:17905200-17905400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr9:17905200-17905400	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr9:17905200-17905400	Enhancers	Right Atrium	heart
40	chr9:17905200-17905600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr9:17905200-17905600	Bivalent Enhancer	Fetal Stomach	stomach
42	chr9:17905200-17905800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr9:17905200-17905800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:17905200-17905800	Bivalent Enhancer	Brain Hippocampus Middle	brain
45	chr9:17905200-17905800	Enhancers	Gastric	stomach
46	chr9:17905200-17905800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr9:17905200-17905800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
48	chr9:17905200-17906600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr9:17905200-17906800	Active TSS	Rectal Smooth Muscle	rectum
50	chr9:17905200-17907000	Enhancers	Pancreas	Pancrea

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