Variant report

Variant	esv1814340
Chromosome Location	chr9:16851678-16865699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 694 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:694 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4961501	chr9:16851678-16851679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533395959	chr9:16851689-16851690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144978273	chr9:16851719-16851720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577913930	chr9:16851758-16851759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564446382	chr9:16851766-16851767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528272713	chr9:16851774-16851775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147564316	chr9:16851790-16851791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187781785	chr9:16851835-16851836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191519658	chr9:16851852-16851853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550131546	chr9:16851853-16851854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140336562	chr9:16851875-16851876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7868036	chr9:16851897-16851898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539450805	chr9:16851935-16851936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182555694	chr9:16851949-16851950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7868157	chr9:16851977-16851978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111610771	chr9:16851984-16851985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551725805	chr9:16852017-16852018	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142971984	chr9:16852032-16852033	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555944116	chr9:16852048-16852049	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574156538	chr9:16852050-16852051	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112828586	chr9:16852058-16852059	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563006272	chr9:16852069-16852070	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552554809	chr9:16852137-16852138	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578063219	chr9:16852179-16852180	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115629303	chr9:16852208-16852209	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564179771	chr9:16852214-16852215	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377326630	chr9:16852245-16852246	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538651177	chr9:16852280-16852281	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528394617	chr9:16852287-16852288	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531198195	chr9:16852288-16852289	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546442355	chr9:16852313-16852314	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569166450	chr9:16852363-16852364	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191961778	chr9:16852365-16852366	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529080346	chr9:16852391-16852392	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62541877	chr9:16852453-16852454	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs77037046	chr9:16852560-16852561	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185271025	chr9:16852588-16852589	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551358152	chr9:16852598-16852599	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567021015	chr9:16852632-16852633	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs57226333	chr9:16852643-16852644	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs60618682	chr9:16852683-16852684	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34296299	chr9:16852707-16852708	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538482840	chr9:16852790-16852791	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200485184	chr9:16852799-16852800	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397957057	chr9:16852807-16852808	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369967889	chr9:16852835-16852836	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373434305	chr9:16852841-16852842	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190148383	chr9:16852843-16852844	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs578148940	chr9:16852890-16852891	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113995512	chr9:16852927-16852928	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Glioblastoma multiforme	18628472	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:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16829200-16852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16829800-16864200	Weak transcription	NH-A	brain
3	chr9:16831000-16859600	Weak transcription	HSMM	muscle
4	chr9:16831200-16852600	Weak transcription	Fetal Lung	lung
5	chr9:16831200-16863400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:16831200-16864400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:16833800-16863800	Weak transcription	NHLF	lung
8	chr9:16834600-16852600	Weak transcription	Fetal Stomach	stomach
9	chr9:16836200-16864400	Weak transcription	NHDF-Ad	bronchial
10	chr9:16838800-16852000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:16840400-16852000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:16842200-16852000	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:16843000-16853200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:16846600-16852000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:16846600-16852800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:16848400-16852800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:16848600-16852000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr9:16848600-16852600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:16848600-16852800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr9:16848800-16852400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:16849000-16852600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:16849400-16852400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:16850400-16852400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:16850800-16852600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:16851000-16851800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:16851600-16852600	Weak transcription	Ovary	ovary
27	chr9:16851800-16854200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:16852000-16852800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:16852000-16853000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:16852000-16853400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:16852000-16853400	Enhancers	Colon Smooth Muscle	Colon
32	chr9:16852400-16852800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:16852400-16853200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:16852400-16853200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:16852400-16853200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:16852400-16853200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr9:16852600-16853000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:16852600-16853200	Enhancers	Fetal Lung	lung
39	chr9:16852600-16853400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:16852600-16853400	Enhancers	Fetal Stomach	stomach
41	chr9:16852600-16853400	Enhancers	Ovary	ovary
42	chr9:16852600-16854000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:16852800-16853000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:16852800-16853200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:16852800-16853200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:16852800-16853200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:16852800-16853400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr9:16852800-16853400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:16852800-16853400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:16852800-16853400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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