Variant report

Variant	esv2761492
Chromosome Location	chr9:9941673-9951874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 631 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:631 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539904186	chr9:9942608-9942609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189776214	chr9:9942617-9942618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576134968	chr9:9942621-9942622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139341377	chr9:9942625-9942626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79135932	chr9:9942628-9942629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541981831	chr9:9942638-9942639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182387958	chr9:9942659-9942660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374702926	chr9:9942661-9942662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75075829	chr9:9942685-9942686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372207268	chr9:9942693-9942694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560079907	chr9:9942816-9942817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559007823	chr9:9942834-9942835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569398126	chr9:9942840-9942841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552172373	chr9:9942881-9942882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538038290	chr9:9942886-9942887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148080217	chr9:9942892-9942893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77415397	chr9:9942895-9942896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113089194	chr9:9942896-9942897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368007306	chr9:9942920-9942921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562398168	chr9:9942937-9942938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78246825	chr9:9942944-9942945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548395276	chr9:9942947-9942948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541350520	chr9:9942954-9942955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367572032	chr9:9942956-9942957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539976426	chr9:9942962-9942963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534057190	chr9:9943000-9943001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372184341	chr9:9943011-9943012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547407242	chr9:9943022-9943023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187942844	chr9:9943028-9943029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs16930650	chr9:9943040-9943041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs114949994	chr9:9943060-9943061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576120919	chr9:9943075-9943076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535602179	chr9:9943102-9943103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555520880	chr9:9943106-9943107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572341235	chr9:9943125-9943126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541629249	chr9:9943126-9943127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs578055693	chr9:9943152-9943153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543681960	chr9:9943165-9943166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10491910	chr9:9943196-9943197	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs578199566	chr9:9943216-9943217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545441338	chr9:9943218-9943219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376358541	chr9:9943240-9943241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563789431	chr9:9943250-9943251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6477426	chr9:9943289-9943290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs563892117	chr9:9943305-9943306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548332036	chr9:9943309-9943310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191032090	chr9:9943339-9943340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527446468	chr9:9943343-9943344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547588681	chr9:9943352-9943353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570604691	chr9:9943358-9943359	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9942600-9943000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr9:9942600-9943000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:9943000-9943400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr9:9943200-9943600	Enhancers	Fetal Heart	heart
5	chr9:9943400-9944400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:9943600-9944200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:9943600-9949600	Weak transcription	Fetal Heart	heart
8	chr9:9943800-9944400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:9946400-9946800	Enhancers	Fetal Brain Male	brain
10	chr9:9949600-9949800	Active TSS	Fetal Heart	heart
11	chr9:9949600-9950400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr9:9949800-9950000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:9949800-9950400	Flanking Active TSS	Fetal Heart	heart
14	chr9:9950000-9950400	Enhancers	Left Ventricle	heart
15	chr9:9950000-9951400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:9950000-9952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:9950400-9950800	Enhancers	Fetal Heart	heart
18	chr9:9950800-9951200	Flanking Active TSS	Fetal Heart	heart
19	chr9:9950800-9952600	Enhancers	Primary hematopoietic stem cells	blood
20	chr9:9951200-9954200	Enhancers	Fetal Heart	heart
21	chr9:9951400-9951800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:9951800-9952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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