Variant report

Variant	nsv613289
Chromosome Location	chr9:8456020-8473169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 889 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1323591	chr9:8456020-8456021	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183533674	chr9:8456028-8456029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79682509	chr9:8456037-8456038	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553454510	chr9:8456047-8456048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573637438	chr9:8456058-8456059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540671365	chr9:8456076-8456077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559385200	chr9:8456113-8456114	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533301618	chr9:8456129-8456130	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12685186	chr9:8456135-8456136	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141608753	chr9:8456142-8456143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530742678	chr9:8456147-8456148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147099181	chr9:8456155-8456156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs17649066	chr9:8456219-8456220	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs6477310	chr9:8456247-8456248	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529386794	chr9:8456252-8456253	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565309484	chr9:8456287-8456288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113749533	chr9:8456290-8456291	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138459717	chr9:8456299-8456300	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565719587	chr9:8456318-8456319	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539771231	chr9:8456334-8456335	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558052115	chr9:8456339-8456340	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112278869	chr9:8456354-8456355	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73424290	chr9:8456365-8456366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537254243	chr9:8456431-8456432	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555880345	chr9:8456467-8456468	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370770577	chr9:8456488-8456489	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573699651	chr9:8456493-8456494	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144399423	chr9:8456499-8456500	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373321759	chr9:8456522-8456523	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553034252	chr9:8456559-8456560	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576320336	chr9:8456569-8456570	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577737777	chr9:8456589-8456590	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73424292	chr9:8456597-8456598	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs116656515	chr9:8456661-8456662	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544271133	chr9:8456666-8456667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561377526	chr9:8456667-8456668	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530787248	chr9:8456687-8456688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542505162	chr9:8456688-8456689	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79479360	chr9:8456713-8456714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529401953	chr9:8456722-8456723	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547462449	chr9:8456730-8456731	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565807431	chr9:8456765-8456766	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533169797	chr9:8456780-8456781	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530118349	chr9:8456855-8456856	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551318090	chr9:8456865-8456866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187368632	chr9:8456867-8456868	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569040518	chr9:8456897-8456898	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555721334	chr9:8456903-8456904	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567828216	chr9:8456957-8456958	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191819468	chr9:8456969-8456970	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8418200-8476000	Weak transcription	Fetal Brain Male	brain
2	chr9:8419200-8491000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:8420600-8466000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:8420600-8557600	Weak transcription	Aorta	Aorta
5	chr9:8421400-8456400	Weak transcription	Ovary	ovary
6	chr9:8422000-8464800	Weak transcription	Brain Germinal Matrix	brain
7	chr9:8424200-8485000	Weak transcription	Fetal Kidney	kidney
8	chr9:8430200-8465000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:8434200-8485200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:8438200-8457600	Weak transcription	Fetal Heart	heart
11	chr9:8438600-8459800	Weak transcription	Brain Angular Gyrus	brain
12	chr9:8442000-8458000	Weak transcription	Brain Hippocampus Middle	brain
13	chr9:8442200-8522200	Weak transcription	Liver	Liver
14	chr9:8447200-8456200	Weak transcription	Brain Anterior Caudate	brain
15	chr9:8447800-8468200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:8448000-8468200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:8448000-8494800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:8448400-8472800	Weak transcription	Fetal Stomach	stomach
19	chr9:8449000-8465000	Weak transcription	Fetal Brain Female	brain
20	chr9:8449800-8460000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:8449800-8460600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:8450200-8457600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:8450400-8456200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:8450400-8457800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:8451400-8456200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:8451400-8457600	Weak transcription	Brain Substantia Nigra	brain
27	chr9:8451400-8460000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:8451400-8492000	Weak transcription	Psoas Muscle	Psoas
29	chr9:8451800-8456600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr9:8451800-8457600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr9:8451800-8464800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr9:8452400-8475800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:8453400-8456400	Strong transcription	Fetal Lung	lung
34	chr9:8453800-8476200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:8454800-8457600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:8455600-8459800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:8456000-8456800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:8456000-8456800	Strong transcription	Fetal Muscle Leg	muscle
39	chr9:8456200-8456600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr9:8456200-8456600	Enhancers	Esophagus	oesophagus
41	chr9:8456200-8456800	Enhancers	Brain Cingulate Gyrus	brain
42	chr9:8456200-8458800	Enhancers	Brain Anterior Caudate	brain
43	chr9:8456400-8456600	Genic enhancers	Fetal Lung	lung
44	chr9:8456400-8456600	Genic enhancers	Ovary	ovary
45	chr9:8456400-8456800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:8456600-8456800	Enhancers	Ovary	ovary
47	chr9:8456600-8457000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr9:8456600-8457400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:8456600-8459600	Weak transcription	Fetal Lung	lung
50	chr9:8456600-8468200	Weak transcription	Brain Inferior Temporal Lobe	brain

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