Variant report

Variant	nsv820261
Chromosome Location	chr9:14868771-14869305
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375563222	chr9:14868785-14868786	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116876887	chr9:14868814-14868815	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568205611	chr9:14868840-14868841	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368575990	chr9:14868848-14868849	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs372699811	chr9:14868906-14868907	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs376656595	chr9:14868915-14868916	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368794455	chr9:14868920-14868921	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61747529	chr9:14868931-14868932	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs199906654	chr9:14868942-14868943	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369146694	chr9:14868948-14868949	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs550846587	chr9:14868950-14868951	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569453437	chr9:14868954-14868955	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs373691883	chr9:14868962-14868963	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs201217735	chr9:14868968-14868969	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs539708931	chr9:14868970-14868971	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76002580	chr9:14868984-14868985	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547779159	chr9:14868986-14868987	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs375233918	chr9:14868987-14868988	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534593430	chr9:14869007-14869008	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114845933	chr9:14869063-14869064	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182835689	chr9:14869073-14869074	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs368012689	chr9:14869103-14869104	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12238629	chr9:14869110-14869111	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560738143	chr9:14869124-14869125	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530392458	chr9:14869140-14869141	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375737268	chr9:14869141-14869142	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs558464927	chr9:14869147-14869148	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545619307	chr9:14869151-14869152	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564034885	chr9:14869160-14869161	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185662290	chr9:14869162-14869163	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs7860346	chr9:14869179-14869180	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs561749472	chr9:14869218-14869219	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117666063	chr9:14869268-14869269	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14843400-14868800	Weak transcription	Pancreas	Pancrea
2	chr9:14849600-14869000	Weak transcription	Small Intestine	intestine
3	chr9:14850200-14869000	Weak transcription	Fetal Brain Male	brain
4	chr9:14853200-14868800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:14859600-14868800	Weak transcription	Aorta	Aorta
6	chr9:14859600-14869600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:14859600-14876600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:14860000-14883800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:14863800-14870400	Enhancers	Colon Smooth Muscle	Colon
10	chr9:14866600-14868800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:14867200-14869000	Bivalent/Poised TSS	HepG2	liver
12	chr9:14867200-14869200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:14868200-14869400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:14868600-14868800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:14868600-14868800	Flanking Active TSS	Fetal Kidney	kidney
16	chr9:14868600-14869000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:14868600-14869000	Flanking Active TSS	Fetal Lung	lung
18	chr9:14868600-14870000	Enhancers	Fetal Stomach	stomach
19	chr9:14868800-14869000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:14868800-14869000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:14868800-14869000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:14868800-14869000	ZNF genes & repeats	Aorta	Aorta
23	chr9:14868800-14869200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:14868800-14869200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr9:14868800-14869200	Enhancers	Fetal Kidney	kidney
26	chr9:14868800-14869200	Enhancers	Pancreas	Pancrea
27	chr9:14868800-14869800	Enhancers	HUVEC	blood vessel
28	chr9:14868800-14870000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:14868800-14870400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr9:14869000-14869600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:14869000-14869600	Weak transcription	Aorta	Aorta
32	chr9:14869000-14869600	Active TSS	HepG2	liver
33	chr9:14869000-14869800	Enhancers	Fetal Brain Male	brain
34	chr9:14869000-14870400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:14869000-14870400	Enhancers	Small Intestine	intestine
36	chr9:14869000-14870600	Enhancers	Fetal Lung	lung
37	chr9:14869200-14869600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:14869200-14870000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:14869200-14870000	Flanking Active TSS	Fetal Kidney	kidney
40	chr9:14869200-14870000	Enhancers	Stomach Mucosa	stomach
41	chr9:14869200-14870400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:14869200-14876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links