Variant report

Variant	nsv466265
Chromosome Location	chr9:16484731-16516941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1543 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1543 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs997693	chr9:16484731-16484732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74739517	chr9:16484752-16484753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548012350	chr9:16484764-16484765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs36056807	chr9:16484780-16484781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529377184	chr9:16484812-16484813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs997694	chr9:16484870-16484871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs76697560	chr9:16484878-16484879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565896615	chr9:16484880-16484881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554997942	chr9:16484891-16484892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576670861	chr9:16484904-16484905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35271466	chr9:16484934-16484935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537091146	chr9:16484937-16484938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558872138	chr9:16484943-16484944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576929504	chr9:16484987-16484988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564268323	chr9:16484992-16484993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541100121	chr9:16485016-16485017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188146243	chr9:16485021-16485022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372709885	chr9:16485031-16485032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571947358	chr9:16485089-16485090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374851796	chr9:16485096-16485097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10962446	chr9:16485097-16485098	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75977444	chr9:16485101-16485102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368373957	chr9:16485109-16485110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58432278	chr9:16485110-16485111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75235572	chr9:16485111-16485112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142121707	chr9:16485123-16485124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150737584	chr9:16485124-16485125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71325972	chr9:16485126-16485127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561072740	chr9:16485127-16485128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61595406	chr9:16485129-16485130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78963313	chr9:16485137-16485138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77129659	chr9:16485138-16485139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531622318	chr9:16485141-16485142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549518623	chr9:16485176-16485177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533202329	chr9:16485192-16485193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192388081	chr9:16485216-16485217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547479685	chr9:16485217-16485218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565764845	chr9:16485253-16485254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536864391	chr9:16485257-16485258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376037695	chr9:16485276-16485277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78201529	chr9:16485330-16485331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570263039	chr9:16485333-16485334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79857260	chr9:16485362-16485363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183579626	chr9:16485372-16485373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34388313	chr9:16485380-16485381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576793914	chr9:16485441-16485442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534683939	chr9:16485451-16485452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374606224	chr9:16485452-16485453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143937153	chr9:16485473-16485474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574586751	chr9:16485524-16485525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16457800-16493400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:16459600-16499800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:16459600-16500000	Weak transcription	NHLF	lung
4	chr9:16460800-16485400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:16471000-16504600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:16482400-16488600	Enhancers	Colon Smooth Muscle	Colon
7	chr9:16483000-16485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:16483200-16485000	Enhancers	Stomach Smooth Muscle	stomach
9	chr9:16483200-16513600	Weak transcription	Psoas Muscle	Psoas
10	chr9:16483600-16485200	Enhancers	Fetal Lung	lung
11	chr9:16483600-16485600	Enhancers	Fetal Kidney	kidney
12	chr9:16483600-16491400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:16483800-16484800	Enhancers	Fetal Stomach	stomach
14	chr9:16483800-16490400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:16484000-16485400	Enhancers	Rectal Smooth Muscle	rectum
16	chr9:16484000-16485800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:16484000-16485800	Enhancers	Ovary	ovary
18	chr9:16484000-16486600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:16484000-16490000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:16484200-16486200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr9:16484200-16486200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:16484200-16488200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:16484400-16485000	Enhancers	HSMM	muscle
24	chr9:16484400-16485400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:16484400-16485800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr9:16484400-16486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:16484400-16489400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:16484600-16485200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:16484600-16485400	Enhancers	HMEC	breast
30	chr9:16484600-16485400	Enhancers	HSMMtube	muscle
31	chr9:16484600-16485400	Enhancers	Osteobl	bone
32	chr9:16484600-16485800	Enhancers	Placenta Amnion	Placenta Amnion
33	chr9:16484600-16487600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr9:16484800-16485000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:16484800-16485800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:16484800-16485800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:16484800-16486000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:16484800-16487600	Weak transcription	Fetal Stomach	stomach
39	chr9:16485000-16485400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr9:16485000-16486800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr9:16485000-16499800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:16485000-16500000	Weak transcription	HSMM	muscle
43	chr9:16485000-16504800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:16485200-16485400	Enhancers	NHDF-Ad	bronchial
45	chr9:16485200-16488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:16485200-16491800	Weak transcription	Fetal Lung	lung
47	chr9:16485400-16485800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:16485400-16485800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr9:16485400-16486400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:16485400-16486400	Weak transcription	H9 Cell Line	embryonic stem cell

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