Variant report

Variant	nsv613925
Chromosome Location	chr9:26127824-26156363
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 813 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:813 , 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	rs7030771	chr9:26127824-26127825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116419474	chr9:26127826-26127827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577588764	chr9:26127881-26127882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531045882	chr9:26127910-26127911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549063219	chr9:26127925-26127926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7045467	chr9:26127935-26127936	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368157645	chr9:26127940-26127941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557991682	chr9:26128006-26128007	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs137969515	chr9:26128021-26128022	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141624587	chr9:26128030-26128031	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540461244	chr9:26128069-26128070	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557545041	chr9:26128077-26128078	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555583897	chr9:26128131-26128132	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs150077292	chr9:26128152-26128153	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537152350	chr9:26128184-26128185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs544294628	chr9:26128189-26128190	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555215412	chr9:26128243-26128244	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573290806	chr9:26128307-26128308	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540657641	chr9:26128353-26128354	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs79633798	chr9:26128367-26128368	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73433627	chr9:26128381-26128382	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75395895	chr9:26128386-26128387	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563502348	chr9:26128409-26128410	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs138384888	chr9:26128499-26128500	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532896949	chr9:26128523-26128524	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs368531501	chr9:26128525-26128526	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191502112	chr9:26128565-26128566	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs1434863	chr9:26128568-26128569	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183885614	chr9:26128569-26128570	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs189499814	chr9:26128579-26128580	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571934788	chr9:26128587-26128588	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs192989653	chr9:26128628-26128629	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs149317362	chr9:26128653-26128654	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs375414924	chr9:26128708-26128709	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536484928	chr9:26128747-26128748	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369805616	chr9:26128751-26128752	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs185151338	chr9:26128769-26128770	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs567047592	chr9:26128813-26128814	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534288153	chr9:26128861-26128862	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552560614	chr9:26128915-26128916	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190249037	chr9:26128962-26128963	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs111823033	chr9:26128972-26128973	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs10125801	chr9:26128983-26128984	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575381204	chr9:26129006-26129007	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542486731	chr9:26129061-26129062	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181748819	chr9:26129091-26129092	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576859893	chr9:26129159-26129160	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs527969932	chr9:26129160-26129161	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs12683747	chr9:26129187-26129188	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369780811	chr9:26129217-26129218	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26127400-26128000	Weak transcription	NHDF-Ad	bronchial
2	chr9:26127600-26128000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:26127800-26130000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:26128000-26129200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:26128000-26130400	Enhancers	NHDF-Ad	bronchial
6	chr9:26128200-26129800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:26128800-26129800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:26129000-26129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:26129200-26134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:26129400-26129800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:26129800-26130000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:26129800-26131600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:26129800-26131800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr9:26130000-26131400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:26130000-26135000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:26130400-26131400	Weak transcription	NHDF-Ad	bronchial
17	chr9:26131400-26133200	Enhancers	NHDF-Ad	bronchial
18	chr9:26131400-26133400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:26131600-26132000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:26131800-26132200	Enhancers	HSMM	muscle
21	chr9:26131800-26132400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr9:26131800-26133000	Enhancers	HUVEC	blood vessel
23	chr9:26132600-26133400	Enhancers	Adipose Nuclei	Adipose
24	chr9:26133400-26134600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:26133400-26135200	Weak transcription	Adipose Nuclei	Adipose
26	chr9:26134600-26136600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:26135000-26135600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:26135200-26136000	Enhancers	Adipose Nuclei	Adipose
29	chr9:26136000-26136400	Weak transcription	Adipose Nuclei	Adipose
30	chr9:26136400-26136600	Enhancers	Adipose Nuclei	Adipose
31	chr9:26136600-26138200	Weak transcription	Adipose Nuclei	Adipose
32	chr9:26137800-26138400	Active TSS	A549	lung
33	chr9:26138200-26138400	Enhancers	Adipose Nuclei	Adipose
34	chr9:26141800-26142200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:26144400-26152200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:26145600-26146200	Active TSS	A549	lung
37	chr9:26151400-26151600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr9:26151400-26154200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:26151400-26154600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr9:26151600-26153400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:26151800-26152400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr9:26151800-26152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:26152000-26154000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:26152200-26153600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:26152200-26153800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr9:26152800-26153600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr9:26153000-26153200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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