Variant report

Variant	esv3407818
Chromosome Location	chr9:15186149-15186656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553216359	chr9:15186166-15186167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150113923	chr9:15186171-15186172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535621441	chr9:15186185-15186186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557016980	chr9:15186215-15186216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138293955	chr9:15186221-15186222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562942447	chr9:15186241-15186242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533001639	chr9:15186279-15186280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150658328	chr9:15186308-15186309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188081906	chr9:15186314-15186315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549464821	chr9:15186315-15186316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191714982	chr9:15186339-15186340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573017280	chr9:15186347-15186348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7852971	chr9:15186391-15186392	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561825663	chr9:15186394-15186395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529492917	chr9:15186486-15186487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569444508	chr9:15186503-15186504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556509738	chr9:15186509-15186510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535189677	chr9:15186530-15186531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551907539	chr9:15186541-15186542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570389574	chr9:15186542-15186543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112436014	chr9:15186572-15186573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140166231	chr9:15186621-15186622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568156058	chr9:15186624-15186625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182347853	chr9:15186625-15186626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374464313	chr9:15186640-15186641	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15156600-15194200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:15156800-15190400	Weak transcription	Brain Anterior Caudate	brain
3	chr9:15156800-15211800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr9:15159000-15211200	Weak transcription	HMEC	breast
5	chr9:15159200-15205800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:15162800-15193000	Weak transcription	Spleen	Spleen
7	chr9:15163000-15233000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:15163200-15186800	Weak transcription	Fetal Kidney	kidney
9	chr9:15166200-15211200	Weak transcription	NH-A	brain
10	chr9:15167000-15196400	Weak transcription	Psoas Muscle	Psoas
11	chr9:15167400-15189000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:15167400-15205600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:15167800-15193400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr9:15167800-15196200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:15168000-15196800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:15168200-15206800	Weak transcription	NHEK	skin
17	chr9:15169000-15193400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr9:15169200-15196600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:15169600-15186800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:15170400-15211000	Weak transcription	Brain Angular Gyrus	brain
21	chr9:15170800-15189400	Weak transcription	Osteobl	bone
22	chr9:15171000-15228600	Weak transcription	Stomach Mucosa	stomach
23	chr9:15172600-15192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:15173000-15194400	Weak transcription	Brain Hippocampus Middle	brain
25	chr9:15173000-15196000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:15174800-15193000	Weak transcription	Fetal Thymus	thymus
27	chr9:15175200-15193400	Weak transcription	HSMM	muscle
28	chr9:15176000-15194400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:15176200-15197000	Weak transcription	HSMMtube	muscle
30	chr9:15176400-15187800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr9:15177000-15191600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr9:15177000-15213000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:15177400-15187400	Weak transcription	Ovary	ovary
34	chr9:15178000-15186800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:15178400-15191400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr9:15178600-15193200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:15178600-15193400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:15178800-15193200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:15179400-15221000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:15179800-15191400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr9:15180000-15192800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr9:15180400-15197400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr9:15180600-15186800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr9:15181000-15193400	Weak transcription	Right Ventricle	heart
45	chr9:15181000-15211800	Weak transcription	NHLF	lung
46	chr9:15181400-15186400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr9:15181800-15187000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr9:15182000-15211400	Weak transcription	Colon Smooth Muscle	Colon
49	chr9:15182200-15186400	Weak transcription	Adipose Nuclei	Adipose
50	chr9:15182200-15191600	Weak transcription	Fetal Muscle Leg	muscle

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