Variant report

Variant	nsv613657
Chromosome Location	chr9:15615321-15727518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:15690406..15691946-chr9:15692582..15695063,2	MCF-7	breast:
2	chr9:15690406..15691946-chr9:15692582..15695063,2	MCF-7	breast:
3	chr9:15510294..15512690-chr9:15720146..15721868,2	MCF-7	breast:
4	chr9:15551936..15552629-chr9:15619996..15620642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164985	chromatin interactions

Extended variants
information (count: 5614 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:5614 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10756677	chr9:15615321-15615322	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572786276	chr9:15615386-15615387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533586993	chr9:15615404-15615405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555613854	chr9:15615425-15615426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189950407	chr9:15615477-15615478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34524426	chr9:15615484-15615485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544115166	chr9:15615492-15615493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545816588	chr9:15615559-15615560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577421025	chr9:15615578-15615579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182758662	chr9:15615588-15615589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547116625	chr9:15615613-15615614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116727787	chr9:15615693-15615694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59115129	chr9:15615775-15615776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35595117	chr9:15615776-15615777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527673639	chr9:15615789-15615790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397893296	chr9:15615791-15615792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549139007	chr9:15615828-15615829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112676127	chr9:15615842-15615843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539432537	chr9:15615845-15615846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115583027	chr9:15615890-15615891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549469420	chr9:15615896-15615897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62573070	chr9:15615898-15615899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374651617	chr9:15615917-15615918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10756678	chr9:15615932-15615933	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs538583492	chr9:15615938-15615939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571863692	chr9:15615979-15615980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539273326	chr9:15615984-15615985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551440087	chr9:15615987-15615988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566473495	chr9:15615988-15615989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555295815	chr9:15615992-15615993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149061962	chr9:15616058-15616059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555028548	chr9:15616073-15616074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566933582	chr9:15616092-15616093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537701811	chr9:15616094-15616095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556085110	chr9:15616125-15616126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143054414	chr9:15616131-15616132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544911614	chr9:15616143-15616144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554221147	chr9:15616169-15616170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531478018	chr9:15616170-15616171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188931990	chr9:15616173-15616174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549853249	chr9:15616191-15616192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193248174	chr9:15616219-15616220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183437290	chr9:15616237-15616238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544115051	chr9:15616241-15616242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565609916	chr9:15616271-15616272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4741517	chr9:15616281-15616282	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547647009	chr9:15616360-15616361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148152632	chr9:15616410-15616411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527354244	chr9:15616481-15616482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549066093	chr9:15616500-15616501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	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
Intellectual disability	22102821	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
Breast cancer	21364760	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
Breast cancer	21611746	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
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15587000-15620400	Weak transcription	Pancreas	Pancrea
2	chr9:15599000-15617800	Weak transcription	Aorta	Aorta
3	chr9:15600600-15617600	Weak transcription	Fetal Stomach	stomach
4	chr9:15601000-15620000	Weak transcription	Ovary	ovary
5	chr9:15608000-15618400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:15609800-15625800	Weak transcription	Brain Hippocampus Middle	brain
7	chr9:15611200-15628200	Weak transcription	Thymus	Thymus
8	chr9:15613000-15622400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:15614200-15622400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:15614200-15629800	Weak transcription	Fetal Lung	lung
11	chr9:15614400-15616200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:15614400-15616800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:15614400-15618400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:15614400-15619800	Weak transcription	Left Ventricle	heart
15	chr9:15614400-15620000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:15614400-15623200	Weak transcription	Fetal Thymus	thymus
17	chr9:15614400-15627400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:15614400-15645000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:15616200-15619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:15616800-15618800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:15617600-15618200	Strong transcription	Fetal Stomach	stomach
22	chr9:15617800-15618000	ZNF genes & repeats	Aorta	Aorta
23	chr9:15617800-15618400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:15617800-15618600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:15617800-15618600	Enhancers	Lung	lung
26	chr9:15618000-15618200	Weak transcription	Aorta	Aorta
27	chr9:15618200-15618800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:15618200-15628200	Weak transcription	Fetal Stomach	stomach
29	chr9:15618400-15627600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:15618800-15629000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:15619200-15623400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:15622400-15622600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:15622400-15622800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:15622400-15622800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr9:15622400-15623200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:15622400-15623200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:15623400-15624400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:15624400-15624800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:15624800-15625000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:15625000-15635400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:15627600-15628800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:15627800-15628200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr9:15627800-15628400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr9:15627800-15628600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr9:15628200-15628400	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr9:15628200-15628400	ZNF genes & repeats	Thymus	Thymus
47	chr9:15628400-15628800	Weak transcription	Thymus	Thymus
48	chr9:15628800-15635600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:15635400-15636200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr9:15635600-15636200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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