Variant report

Variant	nsv1020092
Chromosome Location	chr9:26283966-26407717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:25963971..25964744-chr9:26326247..26327016,2	MCF-7	breast:
2	chr9:26326443..26327103-chr9:26862889..26863559,2	MCF-7	breast:
3	chr9:25964124..25964728-chr9:26326171..26327079,3	MCF-7	breast:

Extended variants
information (count: 2353 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:2353 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs353436	chr9:26289217-26289218	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188558981	chr9:26289219-26289220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79836733	chr9:26289232-26289233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78101102	chr9:26289243-26289244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181549057	chr9:26289250-26289251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557773166	chr9:26289270-26289271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569591252	chr9:26289286-26289287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187109484	chr9:26289310-26289311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148783595	chr9:26289315-26289316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144038645	chr9:26289338-26289339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191891942	chr9:26289341-26289342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146442919	chr9:26289342-26289343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373416271	chr9:26289369-26289370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10967290	chr9:26289807-26289808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552040995	chr9:26289840-26289841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557182011	chr9:26289842-26289843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575558904	chr9:26289859-26289860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542677406	chr9:26289869-26289870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367952452	chr9:26289894-26289895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539952494	chr9:26289912-26289913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561361021	chr9:26289913-26289914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114629488	chr9:26289920-26289921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566563101	chr9:26289943-26289944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565476526	chr9:26289980-26289981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532756467	chr9:26290040-26290041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373998272	chr9:26290044-26290045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551457528	chr9:26290087-26290088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202079260	chr9:26290096-26290097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187133488	chr9:26290101-26290102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116974311	chr9:26290113-26290114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567292720	chr9:26290126-26290127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150388247	chr9:26290173-26290174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374329717	chr9:26290183-26290184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77199901	chr9:26290198-26290199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200016028	chr9:26290272-26290273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534387652	chr9:26290275-26290276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557399119	chr9:26290319-26290320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564593767	chr9:26290323-26290324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190396794	chr9:26290327-26290328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536785687	chr9:26290333-26290334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182986411	chr9:26290340-26290341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573322636	chr9:26290349-26290350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34431557	chr9:26290353-26290354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs408902	chr9:26290354-26290355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577481269	chr9:26290439-26290440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544844562	chr9:26290539-26290540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563126765	chr9:26290585-26290586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538244505	chr9:26290627-26290628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542752433	chr9:26290691-26290692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560672936	chr9:26290698-26290699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Glioblastoma multiforme	21525872	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26289200-26289400	Enhancers	NHDF-Ad	bronchial
2	chr9:26289800-26292000	Weak transcription	NHDF-Ad	bronchial
3	chr9:26290600-26290800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:26290800-26291400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:26290800-26292800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr9:26290800-26294200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:26291400-26294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:26291800-26292000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:26291800-26292200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:26292000-26292600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:26292000-26294200	Enhancers	NHDF-Ad	bronchial
12	chr9:26292600-26292800	Enhancers	A549	lung
13	chr9:26292600-26293400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:26292600-26293400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr9:26292600-26293400	Enhancers	HSMMtube	muscle
16	chr9:26292600-26294000	Enhancers	Hela-S3	cervix
17	chr9:26292600-26294200	Enhancers	HSMM	muscle
18	chr9:26292800-26293000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr9:26292800-26293400	Flanking Active TSS	A549	lung
20	chr9:26292800-26293400	Enhancers	HMEC	breast
21	chr9:26292800-26294000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:26292800-26294000	Enhancers	NH-A	brain
23	chr9:26293000-26293200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:26293000-26293400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:26293000-26293400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:26293000-26293400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:26293000-26293400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:26293000-26293400	Enhancers	NHEK	skin
29	chr9:26293000-26293600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:26293200-26293400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr9:26293200-26293800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:26293200-26294000	Enhancers	H9 Cell Line	embryonic stem cell
33	chr9:26293200-26294000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr9:26293200-26296800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr9:26293400-26293600	Enhancers	A549	lung
36	chr9:26293400-26294200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr9:26294000-26294600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr9:26294000-26295000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:26294000-26309600	Weak transcription	Hela-S3	cervix
40	chr9:26294200-26303000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr9:26294200-26303000	Weak transcription	NHDF-Ad	bronchial
42	chr9:26294600-26295000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:26294600-26302600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:26295000-26295200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:26295000-26295400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr9:26297800-26298000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr9:26298200-26299400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr9:26299400-26301400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr9:26301400-26302800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr9:26301800-26304400	Enhancers	HUVEC	blood vessel

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