Variant report

Variant	esv3331389
Chromosome Location	chr9:78792001-78792285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374455575	chr9:78792053-78792054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34498694	chr9:78792057-78792058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144454387	chr9:78792066-78792067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574621874	chr9:78792067-78792068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186304494	chr9:78792081-78792082	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556997568	chr9:78792082-78792083	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368483653	chr9:78792084-78792085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191591959	chr9:78792085-78792086	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73458375	chr9:78792102-78792103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76846547	chr9:78792104-78792105	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573070951	chr9:78792154-78792155	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11787693	chr9:78792158-78792159	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559743114	chr9:78792164-78792165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111866233	chr9:78792181-78792182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10120025	chr9:78792185-78792186	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563352388	chr9:78792196-78792197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532368603	chr9:78792197-78792198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201510935	chr9:78792208-78792209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60378110	chr9:78792233-78792234	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183431037	chr9:78792235-78792236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78790400-78792400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr9:78790400-78792800	Weak transcription	Primary T cells from cord blood	blood
3	chr9:78790400-78792800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:78790400-78792800	Weak transcription	Fetal Heart	heart
5	chr9:78790400-78792800	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:78790400-78792800	Weak transcription	Fetal Thymus	thymus
7	chr9:78790400-78793000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:78790400-78793000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:78790400-78793200	Strong transcription	Duodenum Mucosa	Duodenum
10	chr9:78790400-78793800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr9:78790400-78794000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:78790400-78794200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr9:78790400-78794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:78790400-78794400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:78790400-78794400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr9:78790400-78794400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:78790400-78794400	Weak transcription	Adipose Nuclei	Adipose
18	chr9:78790400-78794400	Weak transcription	Aorta	Aorta
19	chr9:78790400-78794400	Weak transcription	Esophagus	oesophagus
20	chr9:78790400-78794400	Weak transcription	Fetal Intestine Small	intestine
21	chr9:78790400-78794400	Weak transcription	Fetal Stomach	stomach
22	chr9:78790400-78794400	Weak transcription	Left Ventricle	heart
23	chr9:78790400-78794400	Weak transcription	Ovary	ovary
24	chr9:78790400-78794400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr9:78790400-78794400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:78790400-78794400	Weak transcription	Thymus	Thymus
27	chr9:78790400-78794600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr9:78790400-78794600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:78790400-78794600	Weak transcription	Lung	lung
30	chr9:78790400-78794600	Weak transcription	Psoas Muscle	Psoas
31	chr9:78790400-78794600	Weak transcription	Stomach Mucosa	stomach
32	chr9:78790400-78795000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:78790400-78795000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:78790400-78795000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:78790400-78795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:78790400-78795200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:78790400-78795200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr9:78790400-78795200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:78790400-78795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:78790400-78795200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:78790400-78795200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr9:78790400-78795200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:78790400-78795200	Weak transcription	Placenta	Placenta
44	chr9:78790400-78795200	Weak transcription	Gastric	stomach
45	chr9:78790400-78795200	Weak transcription	Pancreas	Pancrea
46	chr9:78790400-78795200	Weak transcription	HMEC	breast
47	chr9:78790400-78795200	Weak transcription	HSMMtube	muscle
48	chr9:78790400-78795200	Weak transcription	NH-A	brain
49	chr9:78790400-78795200	Weak transcription	NHEK	skin
50	chr9:78790400-78795200	Weak transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links