Variant report

Variant	nsv1021954
Chromosome Location	chr9:1591579-1722416
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:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

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

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

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

No data

Extended variants
information (count: 4554 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4554 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs652803	chr9:1598625-1598626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372285980	chr9:1598631-1598632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10962199	chr9:1598641-1598642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551880425	chr9:1598661-1598662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140659923	chr9:1598671-1598672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538866356	chr9:1598683-1598684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs514779	chr9:1598693-1598694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537409300	chr9:1598696-1598697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10962201	chr9:1598702-1598703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182403352	chr9:1598733-1598734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188006168	chr9:1598766-1598767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145754455	chr9:1598783-1598784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116123268	chr9:1598785-1598786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563774514	chr9:1598793-1598794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112348651	chr9:1598824-1598825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10962203	chr9:1598832-1598833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs1853417	chr9:1598840-1598841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141988594	chr9:1598872-1598873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1853418	chr9:1598874-1598875	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs567296722	chr9:1598882-1598883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1923928	chr9:1598885-1598886	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549421904	chr9:1598895-1598896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569425986	chr9:1598903-1598904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10962204	chr9:1598924-1598925	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs111622885	chr9:1598929-1598930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193017245	chr9:1598934-1598935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565540009	chr9:1598954-1598955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185153449	chr9:1598974-1598975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73374470	chr9:1598979-1598980	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188815700	chr9:1598980-1598981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557456968	chr9:1598986-1598987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527690743	chr9:1598997-1598998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112128313	chr9:1599027-1599028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545202399	chr9:1599035-1599036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565135933	chr9:1599046-1599047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1853419	chr9:1599073-1599074	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs374433286	chr9:1599080-1599081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543453389	chr9:1599104-1599105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1969769	chr9:1599106-1599107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370232264	chr9:1599107-1599108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373893314	chr9:1599117-1599118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77814732	chr9:1599122-1599123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10962206	chr9:1599148-1599149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs373725952	chr9:1599155-1599156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549397428	chr9:1599158-1599159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76609114	chr9:1599168-1599169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9298743	chr9:1599187-1599188	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9298744	chr9:1599200-1599201	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs374156341	chr9:1599219-1599220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192475169	chr9:1599227-1599228	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1598600-1600800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:1599200-1600800	Enhancers	Fetal Muscle Leg	muscle
3	chr9:1599800-1602400	Enhancers	Fetal Lung	lung
4	chr9:1600000-1600200	Enhancers	Fetal Kidney	kidney
5	chr9:1600800-1601600	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:1601400-1601600	Enhancers	Fetal Kidney	kidney
7	chr9:1601600-1603000	Enhancers	Fetal Muscle Leg	muscle
8	chr9:1603000-1606400	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:1606400-1608000	Enhancers	Fetal Muscle Leg	muscle
10	chr9:1606600-1608800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:1608000-1608400	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:1608400-1609200	Enhancers	Fetal Muscle Leg	muscle
13	chr9:1612400-1613000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:1612600-1613600	Enhancers	NHEK	skin
15	chr9:1616400-1616600	Bivalent Enhancer	Left Ventricle	heart
16	chr9:1619800-1620000	Enhancers	Brain Substantia Nigra	brain
17	chr9:1619800-1620400	Enhancers	Brain Angular Gyrus	brain
18	chr9:1619800-1620600	Enhancers	Fetal Muscle Leg	muscle
19	chr9:1630000-1630200	Enhancers	Brain Substantia Nigra	brain
20	chr9:1631800-1659000	Weak transcription	Adipose Nuclei	Adipose
21	chr9:1638800-1639800	Enhancers	NHEK	skin
22	chr9:1639000-1639600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:1647400-1648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:1647400-1648400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:1647400-1648800	Enhancers	NHEK	skin
26	chr9:1647800-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:1648200-1648600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:1648200-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:1658000-1658200	Weak transcription	Pancreas	Pancrea
30	chr9:1658200-1658400	Enhancers	Pancreas	Pancrea
31	chr9:1658400-1659600	Weak transcription	Pancreas	Pancrea
32	chr9:1658800-1660200	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr9:1659000-1659200	Enhancers	Adipose Nuclei	Adipose
34	chr9:1659000-1659600	Enhancers	Colon Smooth Muscle	Colon
35	chr9:1659400-1660000	Enhancers	Fetal Muscle Leg	muscle
36	chr9:1659600-1660000	Enhancers	Fetal Muscle Trunk	muscle
37	chr9:1659600-1660400	Enhancers	Pancreas	Pancrea
38	chr9:1663800-1665800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:1665800-1666600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:1666600-1667200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:1667200-1668000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:1668000-1668200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:1668200-1674800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:1670400-1671800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:1671800-1673200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:1673200-1673600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:1674800-1675800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:1675800-1679000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:1676000-1678200	Weak transcription	Adipose Nuclei	Adipose
50	chr9:1679000-1679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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