Variant report

Variant	nsv968598
Chromosome Location	chr9:18799469-18800631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187148793	chr9:18799486-18799487	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35695262	chr9:18799543-18799544	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575151094	chr9:18799560-18799561	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs118129627	chr9:18799582-18799583	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557365263	chr9:18799599-18799600	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572595564	chr9:18799612-18799613	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34373486	chr9:18799617-18799618	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149540264	chr9:18799743-18799744	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569277332	chr9:18799748-18799749	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539986490	chr9:18799802-18799803	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146180239	chr9:18799833-18799834	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530839247	chr9:18799851-18799852	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539884485	chr9:18799876-18799877	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73644669	chr9:18799877-18799878	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574941606	chr9:18799904-18799905	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192499258	chr9:18799963-18799964	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563681432	chr9:18799979-18799980	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563848560	chr9:18800035-18800036	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376034829	chr9:18800061-18800062	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113555114	chr9:18800065-18800066	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182134570	chr9:18800102-18800103	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564511733	chr9:18800114-18800115	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528549915	chr9:18800146-18800147	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185911702	chr9:18800156-18800157	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568215912	chr9:18800236-18800237	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535314068	chr9:18800246-18800247	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112951855	chr9:18800274-18800275	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569042194	chr9:18800290-18800291	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368302668	chr9:18800305-18800306	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372960513	chr9:18800335-18800336	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550683739	chr9:18800337-18800338	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561472500	chr9:18800360-18800361	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12338814	chr9:18800371-18800372	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545167172	chr9:18800375-18800376	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs66795703	chr9:18800376-18800377	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58346548	chr9:18800398-18800399	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7048605	chr9:18800450-18800451	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190830517	chr9:18800453-18800454	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555629325	chr9:18800500-18800501	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143886272	chr9:18800524-18800525	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533600582	chr9:18800545-18800546	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144794622	chr9:18800571-18800572	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374348978	chr9:18800587-18800588	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111646681	chr9:18800590-18800591	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563938837	chr9:18800603-18800604	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18778400-18817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:18788000-18825200	Weak transcription	HUVEC	blood vessel
3	chr9:18788800-18806200	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:18791200-18803200	Strong transcription	NH-A	brain
5	chr9:18793600-18805000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:18795000-18801200	Genic enhancers	HSMM	muscle
7	chr9:18795200-18800000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:18795200-18800000	Genic enhancers	NHDF-Ad	bronchial
9	chr9:18796000-18800200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:18796600-18799800	Weak transcription	NHLF	lung
11	chr9:18796800-18817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:18797000-18803200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:18797600-18802000	Weak transcription	Fetal Stomach	stomach
14	chr9:18798200-18799600	Enhancers	HSMMtube	muscle
15	chr9:18798200-18799600	Genic enhancers	Osteobl	bone
16	chr9:18798200-18800200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr9:18798200-18801000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:18798400-18799600	Enhancers	Brain Hippocampus Middle	brain
19	chr9:18798800-18799600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:18798800-18800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:18798800-18800800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:18798800-18811200	Weak transcription	Aorta	Aorta
23	chr9:18799000-18801000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:18799200-18799600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr9:18799200-18799800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:18799200-18799800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:18799200-18800000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:18799200-18800200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:18799400-18800000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:18799400-18800200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr9:18799600-18800400	Weak transcription	HSMMtube	muscle
32	chr9:18799600-18801400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:18799600-18801400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:18799600-18803800	Strong transcription	Osteobl	bone
35	chr9:18799800-18804200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr9:18799800-18805200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr9:18800000-18801200	Enhancers	Dnd41	blood
38	chr9:18800000-18801200	Weak transcription	NHDF-Ad	bronchial
39	chr9:18800000-18802400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:18800000-18804200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:18800000-18824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:18800200-18804800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr9:18800200-18805800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:18800400-18801200	Enhancers	HSMMtube	muscle

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