Variant report

Variant	nsv1034673
Chromosome Location	chr9:17739006-17916606
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
2	chr9:17531792..17532337-chr9:17794326..17794832,2	MCF-7	breast:
3	chr9:17822817..17825077-chr9:17826697..17828392,2	K562	blood:
4	chr9:17531372..17532326-chr9:17801979..17802845,5	MCF-7	breast:
5	chr9:17531221..17532407-chr9:17801949..17802935,11	MCF-7	breast:
6	chr6:74564419..74565369-chr9:17774545..17775065,2	K562	blood:
7	chr9:17531556..17532244-chr9:17793906..17794864,2	MCF-7	breast:
8	chr9:17528626..17529303-chr9:17802052..17802868,3	MCF-7	breast:
9	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:
10	chr10:33352554..33353197-chr9:17810608..17811353,2	MCF-7	breast:
11	chr9:17822817..17825077-chr9:17826697..17828392,2	K562	blood:
12	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:

No data

Extended variants
information (count: 6772 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:6772 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2383045	chr9:17739006-17739007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7466010	chr9:17739050-17739051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10963243	chr9:17739134-17739135	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529695378	chr9:17739183-17739184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs720269	chr9:17739210-17739211	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs563398737	chr9:17739265-17739266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371099509	chr9:17739326-17739327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576639111	chr9:17739337-17739338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566037724	chr9:17739396-17739397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530603835	chr9:17739430-17739431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183133150	chr9:17739450-17739451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539466181	chr9:17739473-17739474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187832098	chr9:17739476-17739477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193139984	chr9:17739567-17739568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73412756	chr9:17739580-17739581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367763351	chr9:17739598-17739599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201537916	chr9:17739622-17739623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55888011	chr9:17739623-17739624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397687237	chr9:17739627-17739628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140832665	chr9:17739642-17739643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs3808687	chr9:17739662-17739663	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144578830	chr9:17739678-17739679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184456007	chr9:17739682-17739683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558731995	chr9:17739717-17739718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576986197	chr9:17739760-17739761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541605380	chr9:17739763-17739764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62549699	chr9:17739770-17739771	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7849197	chr9:17739778-17739779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372591288	chr9:17739790-17739791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148902301	chr9:17739807-17739808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530643488	chr9:17739816-17739817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187597623	chr9:17739822-17739823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564282208	chr9:17739833-17739834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3808686	chr9:17739835-17739836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12379565	chr9:17739836-17739837	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs192829903	chr9:17739855-17739856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143624996	chr9:17739930-17739931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529152311	chr9:17739950-17739951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548202694	chr9:17739955-17739956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569670842	chr9:17739986-17739987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527473623	chr9:17740017-17740018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537159612	chr9:17740029-17740030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541072105	chr9:17740078-17740079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7859882	chr9:17740108-17740109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576895777	chr9:17740121-17740122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs3808685	chr9:17740152-17740153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575043319	chr9:17740173-17740174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536118201	chr9:17740184-17740185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184032078	chr9:17740209-17740210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7875701	chr9:17740227-17740228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Lung adenocarcinoma	21935476	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17738400-17740000	Enhancers	Fetal Brain Male	brain
2	chr9:17739200-17741800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:17741200-17742400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:17741600-17742200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:17741800-17742200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr9:17741800-17742200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr9:17741800-17742200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:17741800-17742400	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:17741800-17742600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:17741800-17742600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:17742200-17742400	Enhancers	Gastric	stomach
12	chr9:17742400-17742800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:17742800-17743000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:17743000-17743800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:17743800-17744000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr9:17744000-17750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:17744800-17745000	Enhancers	Gastric	stomach
18	chr9:17749400-17750200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:17750000-17750800	Enhancers	Brain Germinal Matrix	brain
20	chr9:17750200-17750800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr9:17750800-17751800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:17752000-17752200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr9:17754800-17772600	Weak transcription	Hela-S3	cervix
24	chr9:17757400-17757800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:17757800-17758000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:17762400-17764800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr9:17764200-17764800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:17764400-17764600	Enhancers	Gastric	stomach
29	chr9:17764600-17782800	Weak transcription	Gastric	stomach
30	chr9:17764800-17765200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:17765200-17766200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:17765600-17766000	Enhancers	Fetal Muscle Trunk	muscle
33	chr9:17765600-17766200	Enhancers	NHDF-Ad	bronchial
34	chr9:17766000-17766200	Enhancers	Fetal Brain Male	brain
35	chr9:17769000-17769400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:17771400-17771800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr9:17775800-17776800	Enhancers	Fetal Brain Male	brain
38	chr9:17776000-17776400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr9:17776200-17777000	Enhancers	Fetal Brain Female	brain
40	chr9:17776600-17777000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:17776600-17777000	Enhancers	Psoas Muscle	Psoas
42	chr9:17776800-17777000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:17776800-17777000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:17776800-17786200	Weak transcription	Fetal Brain Male	brain
45	chr9:17777600-17778800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr9:17778200-17779600	Weak transcription	Brain Germinal Matrix	brain
47	chr9:17778800-17784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr9:17779600-17779800	Enhancers	Brain Germinal Matrix	brain
49	chr9:17779800-17780200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:17780200-17787200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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