Variant report

Variant	nsv982618
Chromosome Location	chr9:18443533-18446730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537144912	chr9:18443536-18443537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140296764	chr9:18443602-18443603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558420913	chr9:18443674-18443675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570444116	chr9:18443689-18443690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78924026	chr9:18443704-18443705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552912128	chr9:18443789-18443790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145210982	chr9:18443820-18443821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1340039	chr9:18443825-18443826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1340040	chr9:18443831-18443832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575066837	chr9:18443847-18443848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543523707	chr9:18443886-18443887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183986568	chr9:18443931-18443932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577244371	chr9:18443959-18443960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147988733	chr9:18443963-18443964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559644026	chr9:18443967-18443968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368598896	chr9:18443968-18443969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141567639	chr9:18443994-18443995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55807025	chr9:18444036-18444037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543533815	chr9:18444041-18444042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563894737	chr9:18444054-18444055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531093577	chr9:18444065-18444066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561813495	chr9:18444070-18444071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532245498	chr9:18444085-18444086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6475216	chr9:18444138-18444139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
25	rs138271110	chr9:18444196-18444197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75613448	chr9:18444243-18444244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528189742	chr9:18444294-18444295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143944785	chr9:18444365-18444366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147302098	chr9:18444376-18444377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111706757	chr9:18444460-18444461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10810969	chr9:18444487-18444488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568794430	chr9:18444493-18444494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539273720	chr9:18444497-18444498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570152861	chr9:18444515-18444516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144746095	chr9:18444548-18444549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187172800	chr9:18444560-18444561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541474522	chr9:18444562-18444563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12682863	chr9:18444711-18444712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191708549	chr9:18444714-18444715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12345456	chr9:18444734-18444735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369865659	chr9:18444783-18444784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376177465	chr9:18444791-18444792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77897661	chr9:18444793-18444794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577629864	chr9:18444807-18444808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148517896	chr9:18444845-18444846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371313375	chr9:18444934-18444935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112564236	chr9:18444947-18444948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57153018	chr9:18444950-18444951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371308192	chr9:18444996-18444997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528186447	chr9:18445000-18445001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myelofibrosis	22110671	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
Ovarian cancer	19835627	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18439000-18446800	Weak transcription	NHLF	lung
2	chr9:18439200-18446600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:18439200-18447200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:18439200-18447200	Weak transcription	Fetal Lung	lung
5	chr9:18439200-18447200	Weak transcription	Left Ventricle	heart
6	chr9:18439200-18447200	Weak transcription	Lung	lung
7	chr9:18439200-18447400	Weak transcription	Right Atrium	heart
8	chr9:18439200-18447600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:18439400-18446600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:18439400-18446800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:18441000-18443600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:18442200-18443600	Enhancers	HUVEC	blood vessel
13	chr9:18442200-18446600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:18442600-18447200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:18442800-18443600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:18442800-18444000	Enhancers	Fetal Heart	heart
17	chr9:18443000-18447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:18443200-18444800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:18443200-18446000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:18443200-18446400	Weak transcription	Liver	Liver
21	chr9:18443200-18446600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:18443200-18446800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:18443200-18447000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:18443200-18447200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:18443200-18447200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr9:18443200-18447200	Weak transcription	Aorta	Aorta
27	chr9:18443200-18447200	Weak transcription	Brain Hippocampus Middle	brain
28	chr9:18443200-18447200	Weak transcription	NH-A	brain
29	chr9:18443200-18457400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:18443400-18446600	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:18443400-18446800	Weak transcription	NHEK	skin
32	chr9:18443400-18447200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:18443400-18447200	Weak transcription	HMEC	breast
34	chr9:18443400-18447200	Weak transcription	NHDF-Ad	bronchial
35	chr9:18443400-18447400	Weak transcription	Osteobl	bone
36	chr9:18443600-18446600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:18443600-18447000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:18444000-18444400	Weak transcription	Fetal Heart	heart
39	chr9:18444400-18445200	Enhancers	Fetal Heart	heart
40	chr9:18444800-18445000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:18445200-18447200	Weak transcription	Fetal Heart	heart
42	chr9:18446000-18448400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr9:18446400-18448400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:18446400-18448800	Enhancers	Liver	Liver
45	chr9:18446600-18447000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:18446600-18447200	Enhancers	Stomach Smooth Muscle	stomach
47	chr9:18446600-18447600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:18446600-18448000	Enhancers	Brain Anterior Caudate	brain
49	chr9:18446600-18448000	Enhancers	Ovary	ovary
50	chr9:18446600-18448000	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links