Variant report

Variant	nsv1016579
Chromosome Location	chr9:21756285-21785335
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	chr17:47268713..47269635-chr9:21781541..21782153,2	Hela-S3	cervix:

Extended variants
information (count: 1428 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:1428 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115677444	chr9:21756330-21756331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570751743	chr9:21756356-21756357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528618264	chr9:21756366-21756367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181635074	chr9:21756367-21756368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562075919	chr9:21756394-21756395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531087711	chr9:21756398-21756399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144151253	chr9:21756401-21756402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186106432	chr9:21756417-21756418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190145329	chr9:21756440-21756441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574616241	chr9:21756453-21756454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115921585	chr9:21756467-21756468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181335372	chr9:21756528-21756529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368760939	chr9:21756644-21756645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373370320	chr9:21756734-21756735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7872490	chr9:21756738-21756739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534855741	chr9:21756749-21756750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554788751	chr9:21756778-21756779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539241207	chr9:21756794-21756795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371600811	chr9:21756855-21756856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568372075	chr9:21756874-21756875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375240534	chr9:21756876-21756877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377290387	chr9:21756887-21756888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397691738	chr9:21756896-21756897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185842411	chr9:21756904-21756905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556934144	chr9:21756925-21756926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142579248	chr9:21756931-21756932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377510860	chr9:21756932-21756933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202089426	chr9:21756988-21756989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370791996	chr9:21757047-21757048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539152508	chr9:21757152-21757153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552700090	chr9:21757177-21757178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553096040	chr9:21757289-21757290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12344062	chr9:21757333-21757334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374158043	chr9:21757337-21757338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150980020	chr9:21757422-21757423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7846904	chr9:21757432-21757433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs78455606	chr9:21757512-21757513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544537264	chr9:21757570-21757571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10119658	chr9:21757590-21757591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533217243	chr9:21757592-21757593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190954877	chr9:21757624-21757625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560602782	chr9:21757625-21757626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529385197	chr9:21757643-21757644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369775639	chr9:21757677-21757678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373083401	chr9:21757682-21757683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150146316	chr9:21757689-21757690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374506883	chr9:21757696-21757697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182723416	chr9:21757710-21757711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537363331	chr9:21757718-21757719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188884862	chr9:21757740-21757741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:158)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
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
Oral cancer	21386901	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
Breast cancer	21858162	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
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	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
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21525872	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Multiple myeloma	17550852	CNVD
Oral cancer	22144094	CNVD
Lung cancer	21569311	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	21215367	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21755200-21758400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:21755200-21758800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:21755400-21758200	Weak transcription	HMEC	breast
4	chr9:21755600-21757600	Weak transcription	NHEK	skin
5	chr9:21755800-21758600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:21757600-21759000	Enhancers	NHEK	skin
7	chr9:21758200-21759000	Enhancers	HMEC	breast
8	chr9:21758400-21759000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:21758600-21759000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:21758600-21759000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:21758800-21759000	Enhancers	Esophagus	oesophagus
12	chr9:21758800-21759200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:21759000-21762000	Weak transcription	NHEK	skin
14	chr9:21759200-21762200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:21760800-21762400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:21761200-21761800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:21761200-21761800	Enhancers	GM12878-XiMat	blood
18	chr9:21761200-21762000	Enhancers	HSMMtube	muscle
19	chr9:21761600-21761800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr9:21761600-21761800	Enhancers	NHDF-Ad	bronchial
21	chr9:21761800-21764200	Weak transcription	NHDF-Ad	bronchial
22	chr9:21761800-21764600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr9:21762000-21762400	Enhancers	NHEK	skin
24	chr9:21762200-21762600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:21762400-21764600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:21762600-21770200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:21764000-21764800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:21764200-21764800	Enhancers	Osteobl	bone
29	chr9:21764200-21765600	Enhancers	NHDF-Ad	bronchial
30	chr9:21764600-21764800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:21764600-21765600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:21764600-21767200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:21764800-21765000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:21764800-21765200	Enhancers	HepG2	liver
35	chr9:21764800-21765200	Flanking Active TSS	Osteobl	bone
36	chr9:21764800-21765400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:21764800-21765400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:21764800-21765400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:21764800-21765400	Enhancers	NH-A	brain
40	chr9:21765000-21765400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:21765000-21765400	Enhancers	HSMM	muscle
42	chr9:21765000-21765400	Enhancers	NHLF	lung
43	chr9:21765200-21765400	Enhancers	Osteobl	bone
44	chr9:21765200-21765600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:21765400-21765600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:21765400-21765600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:21765400-21765600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr9:21765400-21770400	Weak transcription	NHLF	lung
49	chr9:21765400-21770600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr9:21765400-21770600	Weak transcription	NH-A	brain

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