Variant report

Variant	nsv518193
Chromosome Location	chr9:26275964-26302964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 649 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:649 , 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	rs1897888	chr9:26275964-26275965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62542521	chr9:26275991-26275992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188481503	chr9:26276001-26276002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567458418	chr9:26276021-26276022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193174866	chr9:26276026-26276027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185413897	chr9:26276045-26276046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527848757	chr9:26276081-26276082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372334947	chr9:26276087-26276088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148364889	chr9:26276124-26276125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200369636	chr9:26276137-26276138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145745529	chr9:26276138-26276139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35537917	chr9:26276140-26276141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187783474	chr9:26276146-26276147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556774233	chr9:26276188-26276189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369750446	chr9:26276217-26276218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141588968	chr9:26276225-26276226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568824088	chr9:26276227-26276228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150447271	chr9:26276242-26276243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554394701	chr9:26276251-26276252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566437490	chr9:26276263-26276264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138292979	chr9:26276270-26276271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558738932	chr9:26276338-26276339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7470949	chr9:26276367-26276368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2618024	chr9:26276392-26276393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572081542	chr9:26276398-26276399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10967284	chr9:26276458-26276459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116798982	chr9:26276466-26276467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556429435	chr9:26276467-26276468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142741836	chr9:26276469-26276470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549811240	chr9:26276475-26276476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73427915	chr9:26276483-26276484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560735540	chr9:26276527-26276528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191110868	chr9:26276530-26276531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373953638	chr9:26276555-26276556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546210121	chr9:26276556-26276557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75309712	chr9:26276565-26276566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187108	chr9:26276576-26276577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531849128	chr9:26276645-26276646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550645789	chr9:26276651-26276652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568861388	chr9:26276716-26276717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77819340	chr9:26276737-26276738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75202895	chr9:26276739-26276740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565556128	chr9:26276750-26276751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566402404	chr9:26276752-26276753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539538360	chr9:26276763-26276764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2082714	chr9:26276773-26276774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558438243	chr9:26276790-26276791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535737364	chr9:26276803-26276804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2099436	chr9:26276845-26276846	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs537004536	chr9:26276856-26276857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26272200-26277200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:26277200-26277600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:26277200-26278200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:26289200-26289400	Enhancers	NHDF-Ad	bronchial
5	chr9:26289800-26292000	Weak transcription	NHDF-Ad	bronchial
6	chr9:26290600-26290800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:26290800-26291400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:26290800-26292800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr9:26290800-26294200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:26291400-26294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:26291800-26292000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:26291800-26292200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:26292000-26292600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:26292000-26294200	Enhancers	NHDF-Ad	bronchial
15	chr9:26292600-26292800	Enhancers	A549	lung
16	chr9:26292600-26293400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:26292600-26293400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:26292600-26293400	Enhancers	HSMMtube	muscle
19	chr9:26292600-26294000	Enhancers	Hela-S3	cervix
20	chr9:26292600-26294200	Enhancers	HSMM	muscle
21	chr9:26292800-26293000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr9:26292800-26293400	Flanking Active TSS	A549	lung
23	chr9:26292800-26293400	Enhancers	HMEC	breast
24	chr9:26292800-26294000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:26292800-26294000	Enhancers	NH-A	brain
26	chr9:26293000-26293200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:26293000-26293400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:26293000-26293400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:26293000-26293400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:26293000-26293400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr9:26293000-26293400	Enhancers	NHEK	skin
32	chr9:26293000-26293600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:26293200-26293400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr9:26293200-26293800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:26293200-26294000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr9:26293200-26294000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:26293200-26296800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:26293400-26293600	Enhancers	A549	lung
39	chr9:26293400-26294200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:26294000-26294600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:26294000-26295000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:26294000-26309600	Weak transcription	Hela-S3	cervix
43	chr9:26294200-26303000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr9:26294200-26303000	Weak transcription	NHDF-Ad	bronchial
45	chr9:26294600-26295000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr9:26294600-26302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:26295000-26295200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:26295000-26295400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:26297800-26298000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr9:26298200-26299400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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