Variant report

Variant	nsv613700
Chromosome Location	chr9:17506782-17554647
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:17531412..17532247-chr9:18212958..18213842,2	MCF-7	breast:
2	chr9:17531792..17532337-chr9:17794326..17794832,2	MCF-7	breast:
3	chr9:17531372..17532326-chr9:17801979..17802845,5	MCF-7	breast:
4	chr5:34498444..34499344-chr9:17525014..17525908,2	MCF-7	breast:
5	chr9:17528626..17529303-chr9:17802052..17802868,3	MCF-7	breast:
6	chr9:17531556..17532244-chr9:17793906..17794864,2	MCF-7	breast:
7	chr9:17528534..17529118-chr9:18207797..18208372,2	MCF-7	breast:
8	chr9:17531221..17532407-chr9:17801949..17802935,11	MCF-7	breast:

No data

Extended variants
information (count: 1128 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576117117	chr9:17507803-17507804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140991939	chr9:17507833-17507834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565056692	chr9:17507841-17507842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189155900	chr9:17507845-17507846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149761518	chr9:17507853-17507854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10810796	chr9:17507864-17507865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72711560	chr9:17507866-17507867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192605565	chr9:17507873-17507874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141409741	chr9:17507886-17507887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559734448	chr9:17507930-17507931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183513502	chr9:17507933-17507934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576399833	chr9:17507946-17507947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530110153	chr9:17507986-17507987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12336632	chr9:17508601-17508602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs59124736	chr9:17508611-17508612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557206940	chr9:17508644-17508645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552404138	chr9:17508653-17508654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528157139	chr9:17508656-17508657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28759679	chr9:17508684-17508685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543788902	chr9:17508685-17508686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564983077	chr9:17508706-17508707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148208888	chr9:17508717-17508718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141211754	chr9:17508762-17508763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2208488	chr9:17508774-17508775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs542094039	chr9:17508786-17508787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150288912	chr9:17508794-17508795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529025379	chr9:17509202-17509203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2208493	chr9:17509212-17509213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs78698304	chr9:17509221-17509222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539311413	chr9:17509227-17509228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201980370	chr9:17509268-17509269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12337794	chr9:17509272-17509273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553061770	chr9:17509276-17509277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144343701	chr9:17509361-17509362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2224446	chr9:17509362-17509363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148734690	chr9:17509368-17509369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541969059	chr9:17509432-17509433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142362704	chr9:17509469-17509470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147911598	chr9:17509471-17509472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116340910	chr9:17509497-17509498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75138704	chr9:17509507-17509508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573619432	chr9:17509541-17509542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181470136	chr9:17509544-17509545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561529162	chr9:17509556-17509557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139858827	chr9:17509571-17509572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2593360	chr9:17509597-17509598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs62563001	chr9:17509619-17509620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200223883	chr9:17509638-17509639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532947661	chr9:17509675-17509676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186176903	chr9:17509739-17509740	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
early-passage human iPS cells	21368824	CNVD
Cancer	22183965	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17507800-17508000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:17508600-17508800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:17509200-17509400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:17509200-17509800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:17509400-17509800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:17509800-17510200	Enhancers	Osteobl	bone
7	chr9:17514200-17514600	Enhancers	Dnd41	blood
8	chr9:17515400-17519800	Weak transcription	Pancreas	Pancrea
9	chr9:17519400-17521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:17519600-17519800	Enhancers	Liver	Liver
11	chr9:17519600-17519800	Weak transcription	Fetal Brain Male	brain
12	chr9:17519600-17519800	Enhancers	Fetal Lung	lung
13	chr9:17519600-17520000	Enhancers	Fetal Kidney	kidney
14	chr9:17519600-17520000	Enhancers	A549	lung
15	chr9:17519600-17520400	Active TSS	Stomach Smooth Muscle	stomach
16	chr9:17519600-17520600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:17519600-17520600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr9:17519600-17520600	Enhancers	NHLF	lung
19	chr9:17519600-17521800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:17519800-17520000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:17519800-17520000	Enhancers	Right Atrium	heart
22	chr9:17519800-17520000	Active TSS	HepG2	liver
23	chr9:17519800-17520000	Flanking Active TSS	Osteobl	bone
24	chr9:17519800-17520200	Flanking Active TSS	Liver	Liver
25	chr9:17519800-17520200	Flanking Active TSS	Fetal Lung	lung
26	chr9:17519800-17520600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:17519800-17520600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:17519800-17520600	Enhancers	Pancreas	Pancrea
29	chr9:17519800-17520800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr9:17519800-17521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:17519800-17521600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr9:17519800-17521600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr9:17519800-17521800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:17520000-17520200	Enhancers	Stomach Mucosa	stomach
35	chr9:17520000-17520200	Active TSS	Osteobl	bone
36	chr9:17520000-17520400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:17520000-17520400	Enhancers	HepG2	liver
38	chr9:17520000-17521600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:17520200-17520400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:17520200-17520400	Enhancers	Fetal Muscle Leg	muscle
41	chr9:17520200-17520400	Enhancers	Fetal Stomach	stomach
42	chr9:17520200-17520600	Flanking Active TSS	Stomach Mucosa	stomach
43	chr9:17520200-17520600	Flanking Active TSS	Osteobl	bone
44	chr9:17520200-17521000	Enhancers	Liver	Liver
45	chr9:17520200-17521000	Enhancers	Fetal Lung	lung
46	chr9:17520400-17520600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr9:17520400-17520600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
48	chr9:17520400-17520600	Enhancers	Stomach Smooth Muscle	stomach
49	chr9:17520400-17520600	Active TSS	HepG2	liver
50	chr9:17520400-17521600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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