Variant report

Variant	nsv934201
Chromosome Location	chr9:14740238-14748544
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:20745898..20746419-chr9:14747590..14748110,2	MCF-7	breast:

Extended variants
information (count: 388 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372755249	chr9:14740257-14740258	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs549999821	chr9:14740269-14740270	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs192663947	chr9:14740270-14740271	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs376313938	chr9:14740276-14740277	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs372968128	chr9:14740290-14740291	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs2270528	chr9:14740300-14740301	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs142412464	chr9:14740318-14740319	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs534300973	chr9:14740343-14740344	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs200016257	chr9:14740350-14740351	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs75255636	chr9:14740356-14740357	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs8181212	chr9:14740461-14740462	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs376490576	chr9:14740472-14740473	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs556340323	chr9:14740474-14740475	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs576186586	chr9:14740478-14740479	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs537940612	chr9:14740496-14740497	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs554656121	chr9:14740521-14740522	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs562022382	chr9:14740524-14740525	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs572441336	chr9:14740531-14740532	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs182964250	chr9:14740592-14740593	Weak transcription Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs568069418	chr9:14740623-14740624	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs564454529	chr9:14740634-14740635	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533270717	chr9:14740635-14740636	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs8181217	chr9:14740682-14740683	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139728294	chr9:14740691-14740692	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs113706895	chr9:14740700-14740701	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs150032295	chr9:14740736-14740737	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs187512871	chr9:14740743-14740744	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571726274	chr9:14740751-14740752	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs549090312	chr9:14740780-14740781	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs537687733	chr9:14740797-14740798	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs193269055	chr9:14740808-14740809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7047208	chr9:14740832-14740833	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185404232	chr9:14740883-14740884	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113509887	chr9:14740884-14740885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577043238	chr9:14740896-14740897	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187371164	chr9:14740917-14740918	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539751066	chr9:14740920-14740921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112416857	chr9:14740922-14740923	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545823202	chr9:14740968-14740969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556312960	chr9:14741089-14741090	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144407473	chr9:14741116-14741117	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113205465	chr9:14741144-14741145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541899244	chr9:14741153-14741154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535640445	chr9:14741157-14741158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555872536	chr9:14741166-14741167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111745848	chr9:14741237-14741238	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574755887	chr9:14741256-14741257	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572446806	chr9:14741268-14741269	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs541470407	chr9:14741278-14741279	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564333149	chr9:14741288-14741289	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14717800-14746200	Weak transcription	Pancreas	Pancrea
2	chr9:14726200-14746200	Weak transcription	Aorta	Aorta
3	chr9:14727400-14746200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:14730800-14764400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:14731400-14744800	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:14732200-14744800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:14732600-14755200	Weak transcription	Fetal Intestine Large	intestine
8	chr9:14733600-14749000	Strong transcription	HepG2	liver
9	chr9:14735200-14746400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:14736600-14746200	Weak transcription	Fetal Stomach	stomach
11	chr9:14737400-14746600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:14737800-14745800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:14738000-14746200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:14738600-14741600	Weak transcription	Adipose Nuclei	Adipose
15	chr9:14738600-14746000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr9:14739800-14740400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:14739800-14740400	Strong transcription	Colon Smooth Muscle	Colon
18	chr9:14740000-14740400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr9:14740000-14740400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:14740000-14740600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:14740200-14742400	Weak transcription	Fetal Lung	lung
22	chr9:14740200-14744800	Weak transcription	Fetal Kidney	kidney
23	chr9:14740400-14743600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:14740400-14745600	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:14740400-14749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:14740600-14740800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:14740800-14741200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:14741200-14741400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:14741400-14741600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:14741400-14743600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:14741600-14741800	Strong transcription	Adipose Nuclei	Adipose
32	chr9:14741600-14750000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:14741800-14744800	Weak transcription	Adipose Nuclei	Adipose
34	chr9:14742400-14743400	Strong transcription	Fetal Lung	lung
35	chr9:14743400-14745000	Weak transcription	Fetal Lung	lung
36	chr9:14743600-14744000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:14743600-14744800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:14743600-14749600	Weak transcription	Fetal Heart	heart
39	chr9:14744000-14744800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:14744800-14745000	ZNF genes & repeats	Fetal Kidney	kidney
41	chr9:14744800-14745200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:14744800-14745600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:14744800-14747800	Strong transcription	Fetal Muscle Leg	muscle
44	chr9:14744800-14748800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:14744800-14748800	Strong transcription	Adipose Nuclei	Adipose
46	chr9:14745000-14745200	Strong transcription	Fetal Lung	lung
47	chr9:14745000-14751800	Strong transcription	Fetal Kidney	kidney
48	chr9:14745000-14809800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:14745200-14745400	Weak transcription	Fetal Lung	lung
50	chr9:14745200-14745800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links