Variant report

Variant	nsv1015601
Chromosome Location	chr9:3095312-3150287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 828 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4741806	chr9:3099009-3099010	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370117953	chr9:3099033-3099034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572989181	chr9:3099049-3099050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528904383	chr9:3099051-3099052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535315986	chr9:3099057-3099058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185251649	chr9:3099060-3099061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150632868	chr9:3099065-3099066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543382994	chr9:3099142-3099143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190010805	chr9:3099172-3099173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374840424	chr9:3099209-3099210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576867721	chr9:3099215-3099216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544421228	chr9:3099216-3099217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139800550	chr9:3099253-3099254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10813378	chr9:3099264-3099265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200250489	chr9:3099266-3099267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113526459	chr9:3099274-3099275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144699535	chr9:3099283-3099284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551979412	chr9:3099297-3099298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530332720	chr9:3099317-3099318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10757995	chr9:3099351-3099352	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs377283967	chr9:3099370-3099371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117865842	chr9:3099376-3099377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570450533	chr9:3099409-3099410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182677513	chr9:3099466-3099467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546848788	chr9:3099469-3099470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140604351	chr9:3099478-3099479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535601237	chr9:3099499-3099500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188088648	chr9:3099519-3099520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10813379	chr9:3099546-3099547	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537157563	chr9:3099553-3099554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557079070	chr9:3099563-3099564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76407184	chr9:3099568-3099569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545913045	chr9:3099625-3099626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559963474	chr9:3099626-3099627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144543913	chr9:3099632-3099633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542363849	chr9:3099645-3099646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562278841	chr9:3099682-3099683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147819926	chr9:3099704-3099705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550689420	chr9:3099729-3099730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567277509	chr9:3099778-3099779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139629174	chr9:3099811-3099812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536295600	chr9:3099827-3099828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553043528	chr9:3099829-3099830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191228768	chr9:3099843-3099844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573324174	chr9:3099845-3099846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540843906	chr9:3099869-3099870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532939756	chr9:3099872-3099873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529638516	chr9:3099906-3099907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183544243	chr9:3099919-3099920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17657922	chr9:3099921-3099922	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Ovarian cancer	22355333	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3099000-3100800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:3099000-3100800	Enhancers	Fetal Brain Male	brain
3	chr9:3099200-3100400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:3099600-3100200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:3099800-3100200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:3110200-3110400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:3111000-3111200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:3118000-3118400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:3118800-3119800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:3123800-3124400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:3124000-3124200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:3124000-3124200	Enhancers	Colon Smooth Muscle	Colon
13	chr9:3124000-3124200	Enhancers	Fetal Lung	lung
14	chr9:3124000-3124400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:3124000-3124400	Enhancers	Primary hematopoietic stem cells	blood
16	chr9:3124000-3124400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:3124000-3125400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:3124000-3125400	Active TSS	Stomach Smooth Muscle	stomach
19	chr9:3124200-3124600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:3124200-3124600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:3124200-3125200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:3124200-3125400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:3124400-3124800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr9:3124400-3124800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:3124400-3125600	Weak transcription	Fetal Lung	lung
26	chr9:3124800-3125800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr9:3125200-3125400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:3125200-3125600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr9:3125200-3126000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:3125200-3126800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr9:3125400-3125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:3125400-3126000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:3125400-3126400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:3125600-3126200	Enhancers	Fetal Lung	lung
35	chr9:3125600-3126200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr9:3125600-3126800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:3125800-3126200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:3125800-3126400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr9:3125800-3126600	Enhancers	Adipose Nuclei	Adipose
40	chr9:3126000-3126200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:3126000-3126200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr9:3126000-3126200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:3126200-3126400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:3126200-3126400	Enhancers	Primary hematopoietic stem cells	blood
45	chr9:3126200-3126800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr9:3126400-3126600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:3126400-3126600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr9:3126600-3126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:3133400-3135000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:3135000-3135200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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