Variant report

Variant	nsv613935
Chromosome Location	chr9:26273322-26417858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 2915 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:2915 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs629448	chr9:26273322-26273323	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529225122	chr9:26273340-26273341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs990328	chr9:26273358-26273359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs115953729	chr9:26273363-26273364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115637397	chr9:26273390-26273391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10511769	chr9:26273423-26273424	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570054711	chr9:26273464-26273465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544380310	chr9:26273477-26273478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115834248	chr9:26273479-26273480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191966315	chr9:26273496-26273497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574009124	chr9:26273517-26273518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562257581	chr9:26273519-26273520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527701804	chr9:26273589-26273590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534971905	chr9:26273628-26273629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553294960	chr9:26273634-26273635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185353085	chr9:26273653-26273654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77815784	chr9:26273680-26273681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2785109	chr9:26273682-26273683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35353754	chr9:26273684-26273685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193133787	chr9:26273691-26273692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77891359	chr9:26273693-26273694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79684331	chr9:26273694-26273695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184360983	chr9:26273727-26273728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544614492	chr9:26273757-26273758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543375933	chr9:26273762-26273763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561502201	chr9:26273794-26273795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559758629	chr9:26273801-26273802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528929139	chr9:26273835-26273836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527277142	chr9:26273840-26273841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114950431	chr9:26273843-26273844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559730625	chr9:26273853-26273854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189052578	chr9:26273862-26273863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180887762	chr9:26273875-26273876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147630257	chr9:26273876-26273877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530888645	chr9:26273882-26273883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561612878	chr9:26273883-26273884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531829699	chr9:26273884-26273885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17784656	chr9:26273887-26273888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537726407	chr9:26273895-26273896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370023197	chr9:26273915-26273916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116708630	chr9:26273937-26273938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73645337	chr9:26273950-26273951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571769594	chr9:26273958-26273959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571620160	chr9:26273977-26273978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538811920	chr9:26273984-26273985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183824676	chr9:26274019-26274020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557290550	chr9:26274023-26274024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575820932	chr9:26274029-26274030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543133731	chr9:26274054-26274055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555478845	chr9:26274084-26274085	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:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26271600-26273600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:26271600-26273800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:26272200-26277200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:26272400-26274000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr9:26272600-26273600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:26272800-26273800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:26273400-26273800	Enhancers	A549	lung
8	chr9:26273600-26274000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:26273800-26274000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr9:26275200-26275600	Enhancers	HUVEC	blood vessel
11	chr9:26277200-26277600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:26277200-26278200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:26289200-26289400	Enhancers	NHDF-Ad	bronchial
14	chr9:26289800-26292000	Weak transcription	NHDF-Ad	bronchial
15	chr9:26290600-26290800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:26290800-26291400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:26290800-26292800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:26290800-26294200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:26291400-26294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:26291800-26292000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:26291800-26292200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:26292000-26292600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:26292000-26294200	Enhancers	NHDF-Ad	bronchial
24	chr9:26292600-26292800	Enhancers	A549	lung
25	chr9:26292600-26293400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr9:26292600-26293400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:26292600-26293400	Enhancers	HSMMtube	muscle
28	chr9:26292600-26294000	Enhancers	Hela-S3	cervix
29	chr9:26292600-26294200	Enhancers	HSMM	muscle
30	chr9:26292800-26293000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr9:26292800-26293400	Flanking Active TSS	A549	lung
32	chr9:26292800-26293400	Enhancers	HMEC	breast
33	chr9:26292800-26294000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:26292800-26294000	Enhancers	NH-A	brain
35	chr9:26293000-26293200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr9:26293000-26293400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:26293000-26293400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr9:26293000-26293400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:26293000-26293400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:26293000-26293400	Enhancers	NHEK	skin
41	chr9:26293000-26293600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr9:26293200-26293400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr9:26293200-26293800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:26293200-26294000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:26293200-26294000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr9:26293200-26296800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:26293400-26293600	Enhancers	A549	lung
48	chr9:26293400-26294200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr9:26294000-26294600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:26294000-26295000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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