Variant report

Variant	nsv1024242
Chromosome Location	chr9:3112966-3156620
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:3153271..3155559-chr9:3163455..3165401,2	K562	blood:

Extended variants
information (count: 1075 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1075 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10813452	chr9:3118030-3118031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540817065	chr9:3118052-3118053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560858690	chr9:3118065-3118066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371464875	chr9:3118066-3118067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184195278	chr9:3118084-3118085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556069	chr9:3118085-3118086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563595795	chr9:3118101-3118102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187574001	chr9:3118129-3118130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552332163	chr9:3118130-3118131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376501003	chr9:3118142-3118143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371786895	chr9:3118145-3118146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12351860	chr9:3118175-3118176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556927	chr9:3118183-3118184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs144397799	chr9:3118199-3118200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536271173	chr9:3118233-3118234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs609217	chr9:3118288-3118289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10115821	chr9:3118303-3118304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10118622	chr9:3118317-3118318	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559104716	chr9:3118328-3118329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572593033	chr9:3118366-3118367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541088063	chr9:3118376-3118377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10970100	chr9:3118389-3118390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191202927	chr9:3118390-3118391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572669176	chr9:3118807-3118808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532620248	chr9:3118831-3118832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554512904	chr9:3118832-3118833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541611096	chr9:3118849-3118850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140771848	chr9:3118850-3118851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573001291	chr9:3118866-3118867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530133299	chr9:3118877-3118878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549903129	chr9:3118880-3118881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552715190	chr9:3118885-3118886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs59681614	chr9:3118942-3118943	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571420216	chr9:3118969-3118970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80118907	chr9:3118972-3118973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28706272	chr9:3118979-3118980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566258893	chr9:3119014-3119015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535374022	chr9:3119029-3119030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548776264	chr9:3119041-3119042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537290884	chr9:3119051-3119052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370842235	chr9:3119059-3119060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116675559	chr9:3119063-3119064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537132479	chr9:3119064-3119065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556786263	chr9:3119077-3119078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187606892	chr9:3119080-3119081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs475822	chr9:3119085-3119086	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567476960	chr9:3119094-3119095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146866633	chr9:3119095-3119096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140741389	chr9:3119125-3119126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541771263	chr9:3119129-3119130	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3118000-3118400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr9:3118800-3119800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr9:3123800-3124400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:3124000-3124200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:3124000-3124200	Enhancers	Colon Smooth Muscle	Colon
6	chr9:3124000-3124200	Enhancers	Fetal Lung	lung
7	chr9:3124000-3124400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:3124000-3124400	Enhancers	Primary hematopoietic stem cells	blood
9	chr9:3124000-3124400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:3124000-3125400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:3124000-3125400	Active TSS	Stomach Smooth Muscle	stomach
12	chr9:3124200-3124600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:3124200-3124600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:3124200-3125200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:3124200-3125400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:3124400-3124800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr9:3124400-3124800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:3124400-3125600	Weak transcription	Fetal Lung	lung
19	chr9:3124800-3125800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:3125200-3125400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:3125200-3125600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr9:3125200-3126000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr9:3125200-3126800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr9:3125400-3125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:3125400-3126000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:3125400-3126400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:3125600-3126200	Enhancers	Fetal Lung	lung
28	chr9:3125600-3126200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr9:3125600-3126800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:3125800-3126200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr9:3125800-3126400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr9:3125800-3126600	Enhancers	Adipose Nuclei	Adipose
33	chr9:3126000-3126200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:3126000-3126200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:3126000-3126200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:3126200-3126400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:3126200-3126400	Enhancers	Primary hematopoietic stem cells	blood
38	chr9:3126200-3126800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr9:3126400-3126600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:3126400-3126600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr9:3126600-3126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:3133400-3135000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:3135000-3135200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:3135800-3136800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:3136000-3136600	Enhancers	Primary hematopoietic stem cells	blood
46	chr9:3136200-3136600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:3136400-3138000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr9:3136600-3137000	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr9:3136600-3137600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:3136600-3139000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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