Variant report

Variant	nsv613135
Chromosome Location	chr9:2447910-2486069
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	chr9:2472769..2475226-chr9:2476541..2478535,2	MCF-7	breast:
2	chr9:2469664..2470582-chr9:2495207..2496164,12	MCF-7	breast:
3	chr9:2469321..2470077-chr9:2662127..2662743,2	MCF-7	breast:
4	chr9:2469803..2470606-chr9:2495203..2496152,5	MCF-7	breast:
5	chr9:2472769..2475226-chr9:2476541..2478535,2	MCF-7	breast:
6	chr9:2469587..2470552-chr9:2495208..2496164,11	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2484180-2484336	l_3727_chr9:2411588-2611526_ovary
2	lnc-KIAA0020-1	chr9:2483075-2483418	l_3727_chr9:2411588-2611526_ovary

No data

Extended variants
information (count: 1860 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1860 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10757471	chr9:2447910-2447911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535589930	chr9:2447926-2447927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376619523	chr9:2447951-2447952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187257671	chr9:2447984-2447985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527441825	chr9:2447991-2447992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10966301	chr9:2448028-2448029	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs199586615	chr9:2448030-2448031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564169647	chr9:2448043-2448044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372985316	chr9:2448045-2448046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192021414	chr9:2448058-2448059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558051337	chr9:2448070-2448071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577127162	chr9:2448074-2448075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185212601	chr9:2448082-2448083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559370164	chr9:2448094-2448095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188870199	chr9:2448123-2448124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541957307	chr9:2448178-2448179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1952987	chr9:2448230-2448231	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1952988	chr9:2448235-2448236	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550959010	chr9:2448248-2448249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146091880	chr9:2448282-2448283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140100363	chr9:2448316-2448317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111313298	chr9:2448319-2448320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566512612	chr9:2448336-2448337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193150084	chr9:2448387-2448388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60597002	chr9:2448420-2448421	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs184404695	chr9:2448438-2448439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538057057	chr9:2448455-2448456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557725827	chr9:2448496-2448497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577869618	chr9:2448548-2448549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540178120	chr9:2448554-2448555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188263111	chr9:2448566-2448567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145719086	chr9:2448578-2448579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74507490	chr9:2448587-2448588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562227156	chr9:2448609-2448610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149102395	chr9:2448621-2448622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544794876	chr9:2448638-2448639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79116212	chr9:2448654-2448655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553270998	chr9:2448666-2448667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374210801	chr9:2448677-2448678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373428215	chr9:2448701-2448702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547351842	chr9:2448707-2448708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7864741	chr9:2448715-2448716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370690433	chr9:2448731-2448732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528916426	chr9:2448750-2448751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142211271	chr9:2448756-2448757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7853882	chr9:2448801-2448802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs180922126	chr9:2448833-2448834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573505347	chr9:2448837-2448838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571389755	chr9:2448859-2448860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533817181	chr9:2448860-2448861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2442000-2450000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:2442200-2450000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:2443800-2469000	Weak transcription	Ovary	ovary
4	chr9:2444800-2453600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:2447400-2451400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:2448000-2449000	Enhancers	HSMMtube	muscle
7	chr9:2450000-2450200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:2450200-2469600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:2451000-2462000	Weak transcription	Left Ventricle	heart
10	chr9:2451400-2452800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:2452400-2452600	Enhancers	Psoas Muscle	Psoas
12	chr9:2452600-2452800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:2452600-2453400	Enhancers	Fetal Muscle Leg	muscle
14	chr9:2452600-2465400	Weak transcription	Psoas Muscle	Psoas
15	chr9:2452800-2453400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:2452800-2456000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:2453400-2453800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:2453400-2454000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:2453400-2454000	Enhancers	Fetal Heart	heart
20	chr9:2453600-2454000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr9:2453600-2454000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr9:2453600-2454000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:2453600-2454000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:2453600-2454000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:2456600-2457000	Enhancers	A549	lung
26	chr9:2456800-2458600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:2457000-2457200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:2457000-2457800	Enhancers	Adipose Nuclei	Adipose
29	chr9:2457800-2461800	Weak transcription	Adipose Nuclei	Adipose
30	chr9:2458600-2461600	Enhancers	Fetal Brain Male	brain
31	chr9:2458800-2462200	Enhancers	Fetal Brain Female	brain
32	chr9:2459200-2460200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:2459400-2460000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:2459400-2460000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr9:2459400-2460000	Enhancers	Fetal Muscle Leg	muscle
36	chr9:2459400-2460200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr9:2459400-2460600	Enhancers	Brain Cingulate Gyrus	brain
38	chr9:2459600-2460000	Enhancers	Brain Angular Gyrus	brain
39	chr9:2459600-2460000	Enhancers	Brain Anterior Caudate	brain
40	chr9:2459600-2460000	Enhancers	Fetal Lung	lung
41	chr9:2459600-2460400	Enhancers	Brain Hippocampus Middle	brain
42	chr9:2459800-2460000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:2460000-2461400	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:2460000-2461600	Weak transcription	Fetal Lung	lung
45	chr9:2460000-2461800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:2460000-2462000	Weak transcription	Brain Anterior Caudate	brain
47	chr9:2460200-2461400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:2460200-2461600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:2461400-2462400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr9:2461400-2462400	Enhancers	Fetal Muscle Leg	muscle

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