Variant report

Variant	nsv1016764
Chromosome Location	chr9:1564704-1736070
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1709091..1710013-chr9:1869550..1870469,3	MCF-7	breast:
2	chr9:1721060..1723569-chr9:1724371..1726152,2	MCF-7	breast:
3	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
4	chr9:1721060..1723569-chr9:1724371..1726152,2	MCF-7	breast:
5	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
6	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
7	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:
8	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
9	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:
10	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
11	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
12	chr9:1709062..1709904-chr9:1836847..1837727,2	MCF-7	breast:
13	chr9:1709079..1709791-chr9:1869643..1870482,2	MCF-7	breast:
14	chr9:1100898..1101474-chr9:1619645..1620185,2	MCF-7	breast:
15	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-2	chr9:1633518-1633545	XLOC_007264
2	lnc-SMARCA2-2	chr9:1718867-1718912	XLOC_007264

No data

Extended variants
information (count: 5595 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:5595 , 50 per page) page: 1 2 3 4 5 6 7 ... 112

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533143048	chr9:1574600-1574601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4014231	chr9:1574612-1574613	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559465960	chr9:1574613-1574614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9407637	chr9:1574621-1574622	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201912347	chr9:1574627-1574628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs7021662	chr9:1574629-1574630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs529520860	chr9:1574644-1574645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs527459883	chr9:1574649-1574650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184492808	chr9:1574657-1574658	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141878096	chr9:1574662-1574663	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529974238	chr9:1574668-1574669	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549811199	chr9:1574683-1574684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs9407638	chr9:1574690-1574691	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549639787	chr9:1574695-1574696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7033580	chr9:1574705-1574706	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565809954	chr9:1574711-1574712	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs534892897	chr9:1574719-1574720	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs369696785	chr9:1574725-1574726	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189365645	chr9:1574726-1574727	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568561178	chr9:1574728-1574729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537706697	chr9:1574745-1574746	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs144165541	chr9:1574767-1574768	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs146030212	chr9:1574776-1574777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545820134	chr9:1574777-1574778	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs139835848	chr9:1574792-1574793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs573252777	chr9:1574795-1574796	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs181288002	chr9:1574801-1574802	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374044468	chr9:1574815-1574816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs527408521	chr9:1574828-1574829	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs529860200	chr9:1574838-1574839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184092435	chr9:1574842-1574843	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs9407639	chr9:1574850-1574851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532124815	chr9:1574859-1574860	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552240014	chr9:1574865-1574866	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145434963	chr9:1574866-1574867	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs528138505	chr9:1574875-1574876	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549265284	chr9:1574877-1574878	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568627172	chr9:1574880-1574881	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs537291740	chr9:1574882-1574883	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557209522	chr9:1574884-1574885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs570842237	chr9:1574892-1574893	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs202129762	chr9:1574893-1574894	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs552920770	chr9:1574897-1574898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142544571	chr9:1574901-1574902	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs62536807	chr9:1574909-1574910	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555623308	chr9:1574910-1574911	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574573459	chr9:1574944-1574945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs543672373	chr9:1574950-1574951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs142514793	chr9:1574952-1574953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532416198	chr9:1574974-1574975	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1574600-1575000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr9:1575400-1576200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:1575800-1576200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:1579800-1580200	Enhancers	GM12878-XiMat	blood
5	chr9:1580200-1580600	Active TSS	GM12878-XiMat	blood
6	chr9:1589000-1589200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:1598600-1600800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:1599200-1600800	Enhancers	Fetal Muscle Leg	muscle
9	chr9:1599800-1602400	Enhancers	Fetal Lung	lung
10	chr9:1600000-1600200	Enhancers	Fetal Kidney	kidney
11	chr9:1600800-1601600	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:1601400-1601600	Enhancers	Fetal Kidney	kidney
13	chr9:1601600-1603000	Enhancers	Fetal Muscle Leg	muscle
14	chr9:1603000-1606400	Weak transcription	Fetal Muscle Leg	muscle
15	chr9:1606400-1608000	Enhancers	Fetal Muscle Leg	muscle
16	chr9:1606600-1608800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:1608000-1608400	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:1608400-1609200	Enhancers	Fetal Muscle Leg	muscle
19	chr9:1612400-1613000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr9:1612600-1613600	Enhancers	NHEK	skin
21	chr9:1616400-1616600	Bivalent Enhancer	Left Ventricle	heart
22	chr9:1619800-1620000	Enhancers	Brain Substantia Nigra	brain
23	chr9:1619800-1620400	Enhancers	Brain Angular Gyrus	brain
24	chr9:1619800-1620600	Enhancers	Fetal Muscle Leg	muscle
25	chr9:1630000-1630200	Enhancers	Brain Substantia Nigra	brain
26	chr9:1631800-1659000	Weak transcription	Adipose Nuclei	Adipose
27	chr9:1638800-1639800	Enhancers	NHEK	skin
28	chr9:1639000-1639600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:1647400-1648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:1647400-1648400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:1647400-1648800	Enhancers	NHEK	skin
32	chr9:1647800-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:1648200-1648600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:1648200-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:1658000-1658200	Weak transcription	Pancreas	Pancrea
36	chr9:1658200-1658400	Enhancers	Pancreas	Pancrea
37	chr9:1658400-1659600	Weak transcription	Pancreas	Pancrea
38	chr9:1658800-1660200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr9:1659000-1659200	Enhancers	Adipose Nuclei	Adipose
40	chr9:1659000-1659600	Enhancers	Colon Smooth Muscle	Colon
41	chr9:1659400-1660000	Enhancers	Fetal Muscle Leg	muscle
42	chr9:1659600-1660000	Enhancers	Fetal Muscle Trunk	muscle
43	chr9:1659600-1660400	Enhancers	Pancreas	Pancrea
44	chr9:1663800-1665800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:1665800-1666600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:1666600-1667200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:1667200-1668000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:1668000-1668200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:1668200-1674800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:1670400-1671800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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