Variant report

Variant	nsv1023089
Chromosome Location	chr9:17748811-17919574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74564419..74565369-chr9:17774545..17775065,2	K562	blood:
2	chr9:17531556..17532244-chr9:17793906..17794864,2	MCF-7	breast:
3	chr9:17822817..17825077-chr9:17826697..17828392,2	K562	blood:
4	chr10:33352554..33353197-chr9:17810608..17811353,2	MCF-7	breast:
5	chr9:17531792..17532337-chr9:17794326..17794832,2	MCF-7	breast:
6	chr9:17822817..17825077-chr9:17826697..17828392,2	K562	blood:
7	chr9:17528626..17529303-chr9:17802052..17802868,3	MCF-7	breast:
8	chr9:17531221..17532407-chr9:17801949..17802935,11	MCF-7	breast:
9	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
10	chr9:17531372..17532326-chr9:17801979..17802845,5	MCF-7	breast:
11	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
12	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:

No data

Extended variants
information (count: 6282 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:6282 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1114790	chr9:17748811-17748812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146056309	chr9:17748855-17748856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73414643	chr9:17748858-17748859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547940212	chr9:17748861-17748862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558975780	chr9:17748873-17748874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140040371	chr9:17748888-17748889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541002519	chr9:17748900-17748901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1114789	chr9:17748908-17748909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559521941	chr9:17748913-17748914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575685818	chr9:17748914-17748915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574552740	chr9:17748916-17748917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199940352	chr9:17748926-17748927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546264081	chr9:17748933-17748934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76132582	chr9:17748945-17748946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2383046	chr9:17748960-17748961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs141825268	chr9:17748982-17748983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367961239	chr9:17748983-17748984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113154103	chr9:17748988-17748989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146263961	chr9:17749018-17749019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532399233	chr9:17749075-17749076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547371087	chr9:17749106-17749107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76445608	chr9:17749124-17749125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528533789	chr9:17749159-17749160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530089150	chr9:17749175-17749176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73642209	chr9:17749184-17749185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148485529	chr9:17749221-17749222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142594527	chr9:17749234-17749235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559229463	chr9:17749269-17749270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181683500	chr9:17749271-17749272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4961591	chr9:17749273-17749274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs552979164	chr9:17749276-17749277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574591619	chr9:17749334-17749335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562110062	chr9:17749361-17749362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187146217	chr9:17749370-17749371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556773671	chr9:17749430-17749431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73414652	chr9:17749436-17749437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545659400	chr9:17749442-17749443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144707133	chr9:17749474-17749475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538098431	chr9:17749480-17749481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190892681	chr9:17749487-17749488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76929794	chr9:17749510-17749511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139513899	chr9:17749528-17749529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559281729	chr9:17749570-17749571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530026608	chr9:17749579-17749580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144348603	chr9:17749586-17749587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373913046	chr9:17749605-17749606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548709274	chr9:17749632-17749633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368257483	chr9:17749652-17749653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529481778	chr9:17749658-17749659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111230300	chr9:17749708-17749709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Lung adenocarcinoma	21935476	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17744000-17750200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:17749400-17750200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:17750000-17750800	Enhancers	Brain Germinal Matrix	brain
4	chr9:17750200-17750800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:17750800-17751800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:17752000-17752200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr9:17754800-17772600	Weak transcription	Hela-S3	cervix
8	chr9:17757400-17757800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:17757800-17758000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:17762400-17764800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:17764200-17764800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:17764400-17764600	Enhancers	Gastric	stomach
13	chr9:17764600-17782800	Weak transcription	Gastric	stomach
14	chr9:17764800-17765200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:17765200-17766200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:17765600-17766000	Enhancers	Fetal Muscle Trunk	muscle
17	chr9:17765600-17766200	Enhancers	NHDF-Ad	bronchial
18	chr9:17766000-17766200	Enhancers	Fetal Brain Male	brain
19	chr9:17769000-17769400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:17771400-17771800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr9:17775800-17776800	Enhancers	Fetal Brain Male	brain
22	chr9:17776000-17776400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr9:17776200-17777000	Enhancers	Fetal Brain Female	brain
24	chr9:17776600-17777000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr9:17776600-17777000	Enhancers	Psoas Muscle	Psoas
26	chr9:17776800-17777000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:17776800-17777000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:17776800-17786200	Weak transcription	Fetal Brain Male	brain
29	chr9:17777600-17778800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr9:17778200-17779600	Weak transcription	Brain Germinal Matrix	brain
31	chr9:17778800-17784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:17779600-17779800	Enhancers	Brain Germinal Matrix	brain
33	chr9:17779800-17780200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:17780200-17787200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr9:17782800-17783000	Enhancers	Gastric	stomach
36	chr9:17782800-17783400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:17783000-17783600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr9:17783000-17784000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:17784000-17784600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr9:17784600-17785200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr9:17784800-17799400	Weak transcription	Hela-S3	cervix
42	chr9:17785200-17786000	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr9:17786000-17787600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr9:17786200-17787200	Enhancers	Fetal Brain Male	brain
45	chr9:17787000-17787800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr9:17787000-17800400	Weak transcription	Fetal Brain Female	brain
47	chr9:17787200-17787800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:17787200-17791000	Weak transcription	Fetal Brain Male	brain
49	chr9:17787600-17788600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr9:17788600-17805400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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