Variant report

Variant	esv3434649
Chromosome Location	chr9:17388650-17389240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76541431	chr9:17388691-17388692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577763953	chr9:17388697-17388698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531581908	chr9:17388702-17388703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548333400	chr9:17388703-17388704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1442521	chr9:17388710-17388711	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531053739	chr9:17388738-17388739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552442958	chr9:17388773-17388774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200150344	chr9:17388794-17388795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187457601	chr9:17388800-17388801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533766702	chr9:17388805-17388806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5896741	chr9:17388823-17388824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546596088	chr9:17388857-17388858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568024812	chr9:17388858-17388859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372286302	chr9:17388870-17388871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190514814	chr9:17388912-17388913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs57299809	chr9:17388928-17388929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569066048	chr9:17388940-17388941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368961023	chr9:17388954-17388955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548375565	chr9:17388978-17388979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10119233	chr9:17388999-17389000	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs376285924	chr9:17389031-17389032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12378109	chr9:17389035-17389036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10125886	chr9:17389083-17389084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs373724942	chr9:17389106-17389107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541030053	chr9:17389140-17389141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553339494	chr9:17389200-17389201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180892200	chr9:17389214-17389215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17362000-17394600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr9:17368400-17394600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:17368400-17457800	Weak transcription	Pancreas	Pancrea
4	chr9:17368600-17394800	Weak transcription	Adipose Nuclei	Adipose
5	chr9:17368600-17411200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:17368600-17411400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:17368600-17411400	Weak transcription	Aorta	Aorta
8	chr9:17368800-17411400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:17369000-17395000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr9:17369400-17411200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr9:17371400-17394800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:17377600-17403000	Weak transcription	Fetal Stomach	stomach
13	chr9:17379400-17404200	Weak transcription	Psoas Muscle	Psoas
14	chr9:17379600-17394800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:17379800-17394600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr9:17380600-17411000	Weak transcription	Left Ventricle	heart
17	chr9:17381000-17389400	Weak transcription	Fetal Lung	lung
18	chr9:17381000-17411200	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:17381200-17411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr9:17381400-17397400	Weak transcription	Ovary	ovary
21	chr9:17381400-17422800	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:17381800-17396000	Weak transcription	Liver	Liver
23	chr9:17382000-17394800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:17385200-17396400	Weak transcription	Right Ventricle	heart
25	chr9:17385400-17411400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:17386800-17394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:17387000-17411200	Weak transcription	Dnd41	blood
28	chr9:17387200-17389600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:17388200-17397200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr9:17388200-17411400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:17389000-17404200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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