Variant report

Variant	nsv1030848
Chromosome Location	chr9:1466368-1675561
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
2	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
3	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
4	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:
5	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
6	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
7	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
8	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
9	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
10	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:
11	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:
12	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
13	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:
14	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
15	chr9:1100898..1101474-chr9:1619645..1620185,2	MCF-7	breast:
16	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
17	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 8405 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:8405 , 50 per page) page: 1 2 3 4 5 6 7 ... 169

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961587	chr9:1466368-1466369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368319995	chr9:1466380-1466381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147434304	chr9:1466383-1466384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184125808	chr9:1466400-1466401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188143577	chr9:1466415-1466416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180999183	chr9:1466421-1466422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145692576	chr9:1466429-1466430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544980234	chr9:1466451-1466452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185404906	chr9:1466459-1466460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12337230	chr9:1466499-1466500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190210627	chr9:1466524-1466525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60052393	chr9:1466535-1466536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4523310	chr9:1466542-1466543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181538229	chr9:1466581-1466582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563601190	chr9:1466627-1466628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs953216	chr9:1466631-1466632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs552128558	chr9:1466656-1466657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565958481	chr9:1466681-1466682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73374303	chr9:1466693-1466694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73374304	chr9:1466708-1466709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75366234	chr9:1466715-1466716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560090122	chr9:1466759-1466760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4598305	chr9:1466772-1466773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566606498	chr9:1466780-1466781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187022572	chr9:1466789-1466790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556401743	chr9:1466790-1466791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10961590	chr9:1466792-1466793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs376638208	chr9:1466799-1466800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538955855	chr9:1466888-1466889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558553879	chr9:1466910-1466911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571928234	chr9:1467005-1467006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148480034	chr9:1467044-1467045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112419707	chr9:1467051-1467052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36092185	chr9:1467052-1467053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10115891	chr9:1467096-1467097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10115904	chr9:1467100-1467101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563564326	chr9:1467112-1467113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532635578	chr9:1467125-1467126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369438324	chr9:1467126-1467127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560023181	chr9:1467173-1467174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528473604	chr9:1467187-1467188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544307144	chr9:1467198-1467199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557508931	chr9:1467199-1467200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191816863	chr9:1467228-1467229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548605068	chr9:1467269-1467270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141656016	chr9:1467280-1467281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531028148	chr9:1467299-1467300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531814332	chr9:1467301-1467302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114434629	chr9:1467305-1467306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12339519	chr9:1467372-1467373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1465600-1490800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1469000-1472000	Enhancers	GM12878-XiMat	blood
3	chr9:1479000-1479400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:1479000-1479400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:1489200-1490000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:1489400-1490000	Enhancers	GM12878-XiMat	blood
7	chr9:1489400-1491000	Enhancers	HSMMtube	muscle
8	chr9:1490000-1490400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:1490000-1491000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:1490000-1491200	Flanking Active TSS	GM12878-XiMat	blood
11	chr9:1490200-1490800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:1490200-1491000	Enhancers	Fetal Muscle Leg	muscle
13	chr9:1490400-1490600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:1490400-1490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:1490600-1491200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:1490800-1491000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:1490800-1491000	Enhancers	Adipose Nuclei	Adipose
18	chr9:1490800-1492000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:1491000-1491200	Enhancers	Pancreas	Pancrea
20	chr9:1491000-1491200	Enhancers	Psoas Muscle	Psoas
21	chr9:1491000-1492200	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:1491000-1504000	Weak transcription	Adipose Nuclei	Adipose
23	chr9:1491200-1491400	Enhancers	GM12878-XiMat	blood
24	chr9:1491200-1492200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:1491200-1492400	Weak transcription	Psoas Muscle	Psoas
26	chr9:1492000-1493000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:1492200-1492800	Enhancers	Fetal Muscle Leg	muscle
28	chr9:1492400-1492600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:1492400-1492600	Enhancers	Psoas Muscle	Psoas
30	chr9:1495800-1496000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:1496200-1496400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:1496800-1497000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:1497000-1497200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:1504000-1504800	Strong transcription	Adipose Nuclei	Adipose
35	chr9:1504800-1513800	Weak transcription	Adipose Nuclei	Adipose
36	chr9:1511000-1511200	Enhancers	NHEK	skin
37	chr9:1512600-1513000	Enhancers	Fetal Muscle Leg	muscle
38	chr9:1512800-1514200	Enhancers	NHEK	skin
39	chr9:1513000-1513400	Weak transcription	Fetal Muscle Leg	muscle
40	chr9:1513000-1513800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:1513200-1514000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:1513400-1514800	Enhancers	Fetal Muscle Leg	muscle
43	chr9:1513800-1514600	Enhancers	Adipose Nuclei	Adipose
44	chr9:1514000-1514800	Enhancers	Psoas Muscle	Psoas
45	chr9:1514400-1515000	Enhancers	Fetal Stomach	stomach
46	chr9:1514400-1515800	Enhancers	GM12878-XiMat	blood
47	chr9:1514600-1522600	Weak transcription	Adipose Nuclei	Adipose
48	chr9:1514800-1521600	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:1515000-1515600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr9:1515600-1516000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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