Variant report

Variant	nsv892662
Chromosome Location	chr9:17168867-17329964
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:17219375..17219930-chr9:17402045..17403347,3	MCF-7	breast:
2	chr9:17219155..17220052-chr9:17401883..17402825,5	MCF-7	breast:
3	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:
4	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:
5	chr17:59651978..59652576-chr9:17247861..17248361,2	MCF-7	breast:
6	chr9:17219048..17219921-chr9:17462587..17463121,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3GL2-3	chr9:17322212-17322433	uc_253_+
2	lnc-BNC2-3	chr9:17322212-17322433	uc_253_-

No data

Extended variants
information (count: 7913 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:7913 , 50 per page) page: 1 2 3 4 5 6 7 ... 159

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2210539	chr9:17168867-17168868	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552339807	chr9:17168917-17168918	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs117040296	chr9:17168923-17168924	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs528090185	chr9:17168928-17168929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs139418500	chr9:17168951-17168952	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2210540	chr9:17168954-17168955	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535803817	chr9:17169018-17169019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534144399	chr9:17169020-17169021	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557218068	chr9:17169031-17169032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7856179	chr9:17169080-17169081	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7856183	chr9:17169092-17169093	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs557833184	chr9:17169115-17169116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572961410	chr9:17169139-17169140	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374912924	chr9:17169152-17169153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs182354108	chr9:17169169-17169170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369614524	chr9:17169214-17169215	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs561130667	chr9:17169244-17169245	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148628876	chr9:17169303-17169304	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184805103	chr9:17169355-17169356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs7856550	chr9:17169381-17169382	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568928592	chr9:17169408-17169409	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7856549	chr9:17169424-17169425	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545970800	chr9:17169426-17169427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs564177231	chr9:17169432-17169433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142103225	chr9:17169481-17169482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs546655608	chr9:17169490-17169491	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550313996	chr9:17169501-17169502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528873921	chr9:17169505-17169506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188097722	chr9:17169533-17169534	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565414293	chr9:17169538-17169539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs367823377	chr9:17169571-17169572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10962890	chr9:17169581-17169582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113043206	chr9:17169591-17169592	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs117708405	chr9:17169620-17169621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs115328399	chr9:17169637-17169638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs116057383	chr9:17169655-17169656	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534061754	chr9:17169669-17169670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs114858798	chr9:17169670-17169671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113354485	chr9:17169722-17169723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185358071	chr9:17169725-17169726	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs190128831	chr9:17169753-17169754	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs368735124	chr9:17169768-17169769	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs7857030	chr9:17169778-17169779	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs536553898	chr9:17169799-17169800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574175834	chr9:17169840-17169841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs557294102	chr9:17169851-17169852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575567172	chr9:17169886-17169887	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs151181774	chr9:17169889-17169890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs564304712	chr9:17169895-17169896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs572980840	chr9:17169916-17169917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17155400-17169400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:17155600-17169200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:17156000-17169000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:17156000-17171400	Weak transcription	Liver	Liver
5	chr9:17156200-17169000	Weak transcription	Left Ventricle	heart
6	chr9:17156200-17171400	Weak transcription	Ovary	ovary
7	chr9:17156200-17171400	Weak transcription	Pancreas	Pancrea
8	chr9:17156200-17171600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:17156200-17177400	Weak transcription	Fetal Stomach	stomach
10	chr9:17156200-17178200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr9:17156200-17178800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:17156400-17169000	Weak transcription	Fetal Lung	lung
13	chr9:17157800-17169000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr9:17159800-17195600	Weak transcription	Aorta	Aorta
15	chr9:17165400-17169000	Weak transcription	Brain Germinal Matrix	brain
16	chr9:17166000-17169200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr9:17167000-17170000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:17168000-17169000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:17168000-17171400	Weak transcription	Dnd41	blood
20	chr9:17168000-17172800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:17168600-17169000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:17168800-17169800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr9:17169000-17169200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:17169000-17169200	ZNF genes & repeats	Left Ventricle	heart
25	chr9:17169000-17169400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr9:17169000-17169600	ZNF genes & repeats	Fetal Lung	lung
27	chr9:17169200-17169600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr9:17169200-17169600	Weak transcription	Left Ventricle	heart
29	chr9:17169200-17169800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:17169400-17171200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr9:17169600-17173400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:17169600-17181800	Weak transcription	Fetal Lung	lung
33	chr9:17170800-17171000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:17171200-17171400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr9:17171200-17171400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr9:17171200-17171800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:17171200-17171800	Enhancers	HepG2	liver
38	chr9:17171400-17171600	Enhancers	Pancreas	Pancrea
39	chr9:17171400-17171600	Enhancers	Dnd41	blood
40	chr9:17171400-17171800	Enhancers	Liver	Liver
41	chr9:17171400-17171800	Enhancers	Ovary	ovary
42	chr9:17171600-17171800	ZNF genes & repeats	Pancreas	Pancrea
43	chr9:17171600-17172000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:17171600-17172200	Enhancers	Right Ventricle	heart
45	chr9:17171800-17172200	Genic enhancers	Pancreas	Pancrea
46	chr9:17171800-17172200	Flanking Active TSS	HepG2	liver
47	chr9:17171800-17177600	Weak transcription	Liver	Liver
48	chr9:17172000-17172400	Enhancers	Psoas Muscle	Psoas
49	chr9:17172000-17178200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:17172200-17172400	Enhancers	HepG2	liver

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