Variant report

Variant	esv3383434
Chromosome Location	chr9:14937452-14939550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112657630	chr9:14937464-14937465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540458934	chr9:14937524-14937525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561642190	chr9:14937538-14937539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201571993	chr9:14937562-14937563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188679404	chr9:14937570-14937571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148649696	chr9:14937574-14937575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191956695	chr9:14937598-14937599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545149485	chr9:14937600-14937601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183290779	chr9:14937622-14937623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7851561	chr9:14937634-14937635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537091185	chr9:14937638-14937639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75063716	chr9:14937775-14937776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567912462	chr9:14937789-14937790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532055032	chr9:14937794-14937795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10756628	chr9:14937853-14937854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142107332	chr9:14937879-14937880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79975447	chr9:14937894-14937895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58304447	chr9:14937913-14937914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187045703	chr9:14937922-14937923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533699641	chr9:14937927-14937928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574014187	chr9:14937958-14937959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191488943	chr9:14937998-14937999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536571676	chr9:14938027-14938028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139853762	chr9:14938030-14938031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149853166	chr9:14938075-14938076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573084206	chr9:14938087-14938088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577942074	chr9:14938091-14938092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147946212	chr9:14938186-14938187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560380784	chr9:14938201-14938202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142058639	chr9:14938232-14938233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370451462	chr9:14938260-14938261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527790166	chr9:14938267-14938268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543204124	chr9:14938288-14938289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561483701	chr9:14938305-14938306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200027377	chr9:14938337-14938338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182513132	chr9:14938345-14938346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368323042	chr9:14938352-14938353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186794477	chr9:14938369-14938370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147048520	chr9:14938376-14938377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575165248	chr9:14938390-14938391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192261714	chr9:14938456-14938457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374934754	chr9:14938521-14938522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185802857	chr9:14938543-14938544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570649152	chr9:14938562-14938563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559607010	chr9:14938578-14938579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551357971	chr9:14938579-14938580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73419730	chr9:14938614-14938615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533654774	chr9:14938641-14938642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529511598	chr9:14938652-14938653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555112789	chr9:14938679-14938680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	21611746	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

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14925200-14945400	Weak transcription	Aorta	Aorta
2	chr9:14933000-14941800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:14933200-14957200	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:14934600-14938200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:14935000-14937600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:14935200-14937600	Enhancers	Fetal Stomach	stomach
7	chr9:14935200-14939200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:14935800-14938800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:14936600-14942000	Weak transcription	Fetal Kidney	kidney
10	chr9:14936800-14947200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:14937000-14937600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr9:14937200-14938600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:14937200-14938800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:14937200-14939000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:14937200-14939000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:14937200-14941800	Weak transcription	Fetal Lung	lung
17	chr9:14937600-14939400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:14938200-14939200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:14938600-14940000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:14938800-14939400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:14938800-14940000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:14939000-14939400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr9:14939000-14939800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:14939200-14939800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:14939200-14940000	Enhancers	HepG2	liver
26	chr9:14939400-14939800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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