Variant report

Variant	nsv1030291
Chromosome Location	chr9:17216945-17262803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 2039 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2039 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55814315	chr9:17216954-17216955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138167549	chr9:17216989-17216990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142641618	chr9:17217056-17217057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533298002	chr9:17217084-17217085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551874076	chr9:17217089-17217090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560350405	chr9:17217114-17217115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192907896	chr9:17217129-17217130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374301048	chr9:17217183-17217184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548919606	chr9:17217204-17217205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564432303	chr9:17217221-17217222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571080314	chr9:17217279-17217280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79858776	chr9:17217330-17217331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114070362	chr9:17217345-17217346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550538948	chr9:17217346-17217347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532630698	chr9:17217391-17217392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569013321	chr9:17217393-17217394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539228016	chr9:17217402-17217403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557847845	chr9:17217412-17217413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16935405	chr9:17217418-17217419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs117706661	chr9:17217419-17217420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555398316	chr9:17217423-17217424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529369845	chr9:17217426-17217427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557617506	chr9:17217448-17217449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146043962	chr9:17217449-17217450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569266520	chr9:17217471-17217472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139913325	chr9:17217479-17217480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578136500	chr9:17217489-17217490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545231465	chr9:17217497-17217498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114734022	chr9:17217500-17217501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368781815	chr9:17217529-17217530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527779362	chr9:17217610-17217611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115190385	chr9:17217632-17217633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141759216	chr9:17217663-17217664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529181132	chr9:17217664-17217665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184889205	chr9:17217680-17217681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533605568	chr9:17217698-17217699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569020026	chr9:17217703-17217704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533158074	chr9:17217748-17217749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551237278	chr9:17217754-17217755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188934843	chr9:17217784-17217785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144471567	chr9:17217806-17217807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548858590	chr9:17217853-17217854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116132734	chr9:17217872-17217873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537410468	chr9:17217882-17217883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181668297	chr9:17217927-17217928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78460750	chr9:17217944-17217945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117723740	chr9:17217946-17217947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527498405	chr9:17217954-17217955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35211821	chr9:17217997-17217998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553939345	chr9:17217998-17217999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17204600-17236000	Weak transcription	Ovary	ovary
2	chr9:17207800-17246400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:17215600-17217000	Enhancers	Right Atrium	heart
4	chr9:17216000-17217600	Enhancers	Left Ventricle	heart
5	chr9:17216000-17217600	Enhancers	Psoas Muscle	Psoas
6	chr9:17216800-17217000	Enhancers	Liver	Liver
7	chr9:17216800-17217600	Enhancers	Pancreas	Pancrea
8	chr9:17217000-17224800	Weak transcription	Liver	Liver
9	chr9:17217600-17225200	Weak transcription	Pancreas	Pancrea
10	chr9:17217600-17247000	Weak transcription	Left Ventricle	heart
11	chr9:17218400-17218800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:17218400-17219000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:17219000-17220200	Enhancers	Osteobl	bone
14	chr9:17219200-17220000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:17219200-17220200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:17219600-17220000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:17219600-17220200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:17220000-17230000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:17222200-17223600	Enhancers	Colon Smooth Muscle	Colon
20	chr9:17222200-17242000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:17223000-17223200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr9:17223000-17223400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:17223200-17223600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr9:17223200-17242200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr9:17223400-17226600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:17223600-17224200	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:17223600-17279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:17224200-17224400	Enhancers	Colon Smooth Muscle	Colon
29	chr9:17224200-17227000	Weak transcription	Aorta	Aorta
30	chr9:17224400-17242800	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:17224600-17242200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:17224800-17225400	Enhancers	Liver	Liver
33	chr9:17224800-17226600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr9:17225000-17225400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:17225200-17225400	Enhancers	Pancreas	Pancrea
36	chr9:17225200-17242000	Weak transcription	Fetal Lung	lung
37	chr9:17225400-17230000	Weak transcription	Liver	Liver
38	chr9:17225400-17246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:17225600-17228400	Weak transcription	Adipose Nuclei	Adipose
40	chr9:17225800-17228000	Weak transcription	HUVEC	blood vessel
41	chr9:17226200-17241000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:17226400-17230000	Weak transcription	Thymus	Thymus
43	chr9:17226600-17227200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:17226600-17228200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr9:17227000-17227200	ZNF genes & repeats	Aorta	Aorta
46	chr9:17227000-17229600	Weak transcription	Fetal Intestine Small	intestine
47	chr9:17227200-17227400	Weak transcription	Aorta	Aorta
48	chr9:17227200-17228800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:17227800-17230200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:17228200-17233800	Weak transcription	Primary monocytes fromperipheralblood	blood

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