Variant report

Variant	nsv933933
Chromosome Location	chr9:14819522-14825078
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	chr9:14813259..14815238-chr9:14818255..14820615,2	K562	blood:

Extended variants
information (count: 288 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539755731	chr9:14819584-14819585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551755177	chr9:14819591-14819592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115045204	chr9:14819599-14819600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534242141	chr9:14819606-14819607	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537029648	chr9:14819607-14819608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555566460	chr9:14819608-14819609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374177597	chr9:14819620-14819621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574099084	chr9:14819629-14819630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538012903	chr9:14819641-14819642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11789800	chr9:14819651-14819652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12001036	chr9:14819738-14819739	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545287797	chr9:14819743-14819744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554497307	chr9:14819801-14819802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10961730	chr9:14819813-14819814	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540257948	chr9:14819823-14819824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138644939	chr9:14819831-14819832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529018502	chr9:14819900-14819901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368387088	chr9:14819941-14819942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183385103	chr9:14819955-14819956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370827524	chr9:14819963-14819964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374522260	chr9:14819990-14819991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117494027	chr9:14820024-14820025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142946637	chr9:14820034-14820035	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371186621	chr9:14820063-14820064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187302610	chr9:14820098-14820099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566783850	chr9:14820107-14820108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527655386	chr9:14820120-14820121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570118291	chr9:14820131-14820132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549382807	chr9:14820147-14820148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72711377	chr9:14820164-14820165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2818929	chr9:14820170-14820171	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190157920	chr9:14820213-14820214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2779502	chr9:14820223-14820224	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs114403346	chr9:14820302-14820303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182350859	chr9:14820334-14820335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557750153	chr9:14820344-14820345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572714750	chr9:14820362-14820363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539818049	chr9:14820456-14820457	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555344548	chr9:14820478-14820479	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186634447	chr9:14820625-14820626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193102026	chr9:14820632-14820633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137945001	chr9:14820647-14820648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533137291	chr9:14820687-14820688	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72711378	chr9:14820694-14820695	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35206034	chr9:14820732-14820733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560163129	chr9:14820743-14820744	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185878506	chr9:14820772-14820773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188747139	chr9:14820773-14820774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10961731	chr9:14820782-14820783	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs542204317	chr9:14820799-14820800	Strong transcription Weak transcription	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
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14779800-14853200	Weak transcription	Placenta	Placenta
2	chr9:14780400-14843200	Weak transcription	Fetal Heart	heart
3	chr9:14782000-14822000	Weak transcription	Fetal Brain Male	brain
4	chr9:14782800-14822000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:14793000-14822600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:14801800-14857200	Strong transcription	HepG2	liver
7	chr9:14807200-14822800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:14807400-14868600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:14809200-14847600	Weak transcription	Fetal Intestine Small	intestine
10	chr9:14810200-14831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:14810400-14849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:14813000-14823000	Weak transcription	Fetal Intestine Large	intestine
13	chr9:14813200-14820000	Weak transcription	Fetal Stomach	stomach
14	chr9:14813200-14821600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:14814200-14820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:14814200-14842200	Weak transcription	Pancreas	Pancrea
17	chr9:14815000-14824600	Strong transcription	Adipose Nuclei	Adipose
18	chr9:14815200-14831800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr9:14816400-14824200	Strong transcription	Aorta	Aorta
20	chr9:14816400-14826000	Strong transcription	Fetal Kidney	kidney
21	chr9:14816600-14826200	Strong transcription	Fetal Lung	lung
22	chr9:14817000-14820200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:14817400-14820600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:14817800-14820200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:14817800-14821200	Strong transcription	Colon Smooth Muscle	Colon
26	chr9:14818000-14822200	Weak transcription	Fetal Muscle Leg	muscle
27	chr9:14820000-14822400	Strong transcription	Fetal Stomach	stomach
28	chr9:14820200-14823800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr9:14820200-14825400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr9:14820400-14822400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:14820600-14823400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:14821200-14821800	Weak transcription	Colon Smooth Muscle	Colon
33	chr9:14821600-14823400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr9:14821800-14822000	Strong transcription	Colon Smooth Muscle	Colon
35	chr9:14822000-14822400	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:14822200-14822800	Strong transcription	Fetal Muscle Leg	muscle
37	chr9:14822400-14823400	Enhancers	Primary B cells from peripheral blood	blood
38	chr9:14822400-14824200	Strong transcription	Colon Smooth Muscle	Colon
39	chr9:14822400-14824600	Enhancers	GM12878-XiMat	blood
40	chr9:14822400-14827800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:14822400-14827800	Weak transcription	Fetal Stomach	stomach
42	chr9:14822800-14824000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:14822800-14829600	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:14823000-14825000	Strong transcription	Fetal Intestine Large	intestine
45	chr9:14823400-14824800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:14823400-14848400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:14823800-14826600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr9:14824000-14852800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:14824200-14826400	Weak transcription	Colon Smooth Muscle	Colon
50	chr9:14824200-14827800	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links