Variant report

Variant	nsv982616
Chromosome Location	chr9:16533641-16536774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117309001	chr9:16533678-16533679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373830743	chr9:16533849-16533850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553664765	chr9:16533868-16533869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572339021	chr9:16533881-16533882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144183050	chr9:16533925-16533926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554147067	chr9:16533964-16533965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145170097	chr9:16533979-16533980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386414531	chr9:16533981-16533982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188378307	chr9:16533983-16533984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114246495	chr9:16534006-16534007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191172603	chr9:16534041-16534042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546654283	chr9:16534081-16534082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564608498	chr9:16534093-16534094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576839845	chr9:16534144-16534145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111414393	chr9:16534282-16534283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535387845	chr9:16534315-16534316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552042803	chr9:16534354-16534355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183016772	chr9:16534360-16534361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548856327	chr9:16534448-16534449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563684540	chr9:16534522-16534523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530894134	chr9:16534606-16534607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552727817	chr9:16534610-16534611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114943831	chr9:16534625-16534626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534793613	chr9:16534682-16534683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571806136	chr9:16534771-16534772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34371139	chr9:16534848-16534849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186692006	chr9:16534887-16534888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35660739	chr9:16534911-16534912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565690364	chr9:16534926-16534927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146583306	chr9:16534965-16534966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554408689	chr9:16535003-16535004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10120002	chr9:16535015-16535016	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536674972	chr9:16535032-16535033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558111685	chr9:16535036-16535037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191107117	chr9:16535050-16535051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76286078	chr9:16535051-16535052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553537661	chr9:16535057-16535058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184786976	chr9:16535112-16535113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77223296	chr9:16535120-16535121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563943898	chr9:16535173-16535174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531210076	chr9:16535177-16535178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546253931	chr9:16535204-16535205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533547338	chr9:16535220-16535221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574094968	chr9:16535240-16535241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560443966	chr9:16535282-16535283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564314577	chr9:16535306-16535307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528589414	chr9:16535443-16535444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536330025	chr9:16535464-16535465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546737284	chr9:16535475-16535476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552141855	chr9:16535479-16535480	Weak transcription Enhancers	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
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
Breast cancer	21364760	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16520200-16535400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:16522800-16540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:16523000-16535400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:16525000-16551400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:16528000-16535600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:16528000-16553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:16528800-16551200	Weak transcription	Fetal Intestine Large	intestine
8	chr9:16530800-16533800	Enhancers	NHLF	lung
9	chr9:16531400-16535400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:16531400-16535600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:16531400-16535600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:16531400-16540800	Weak transcription	Psoas Muscle	Psoas
13	chr9:16531400-16541200	Weak transcription	Fetal Lung	lung
14	chr9:16531400-16551200	Weak transcription	Fetal Stomach	stomach
15	chr9:16531600-16540800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:16532200-16534000	Enhancers	HUVEC	blood vessel
17	chr9:16532200-16537400	Enhancers	Colon Smooth Muscle	Colon
18	chr9:16532400-16534000	Enhancers	Rectal Smooth Muscle	rectum
19	chr9:16532400-16534400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:16533000-16535400	Weak transcription	HMEC	breast
21	chr9:16533000-16535600	Weak transcription	Ovary	ovary
22	chr9:16533000-16541200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:16533200-16535400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:16533200-16535600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:16533200-16540600	Weak transcription	NH-A	brain
26	chr9:16533200-16540800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:16533200-16540800	Weak transcription	A549	lung
28	chr9:16533200-16540800	Weak transcription	HSMM	muscle
29	chr9:16533400-16535400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:16533400-16535400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:16533400-16535600	Weak transcription	NHDF-Ad	bronchial
32	chr9:16533400-16535600	Weak transcription	NHEK	skin
33	chr9:16533600-16535600	Weak transcription	Osteobl	bone
34	chr9:16533600-16540800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:16533800-16540800	Weak transcription	NHLF	lung
36	chr9:16534000-16542600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr9:16534400-16535400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:16535400-16535800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:16535400-16535800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:16535400-16535800	Enhancers	HMEC	breast
41	chr9:16535400-16536000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:16535400-16536000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:16535400-16536000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:16535400-16536000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr9:16535400-16536000	Enhancers	Placenta Amnion	Placenta Amnion
46	chr9:16535400-16536200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:16535600-16535800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:16535600-16535800	Genic enhancers	Ovary	ovary
49	chr9:16535600-16536000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:16535600-16536000	Enhancers	NHDF-Ad	bronchial

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