Variant report

Variant	nsv1025086
Chromosome Location	chr9:1554692-1676464
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
2	chr9:1605194..1607051-chr9:1607421..1609783,2	MCF-7	breast:
3	chr9:1604812..1606126-chr9:1619456..1620358,3	MCF-7	breast:
4	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
5	chr9:1433839..1434724-chr9:1619824..1620539,2	MCF-7	breast:
6	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
7	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:
8	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
9	chr9:1100898..1101474-chr9:1619645..1620185,2	MCF-7	breast:
10	chr9:1604812..1606126-chr9:1619456..1620358,3	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: 3854 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:3854 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77621988	chr9:1554710-1554711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs771920	chr9:1554754-1554755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs183188743	chr9:1554755-1554756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555273557	chr9:1554788-1554789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575213459	chr9:1554796-1554797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113595538	chr9:1554798-1554799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs771921	chr9:1554811-1554812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112862560	chr9:1554828-1554829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145574314	chr9:1554834-1554835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74399484	chr9:1554855-1554856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76576466	chr9:1554876-1554877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565072930	chr9:1554912-1554913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527457390	chr9:1554922-1554923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541240990	chr9:1554933-1554934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560800482	chr9:1554935-1554936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529979492	chr9:1554947-1554948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80236316	chr9:1554950-1554951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187595109	chr9:1554978-1554979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs367656396	chr9:1554982-1554983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532221251	chr9:1555002-1555003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551952440	chr9:1555070-1555071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148873175	chr9:1555079-1555080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534860927	chr9:1555099-1555100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs771922	chr9:1555134-1555135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs568760232	chr9:1555170-1555171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537787034	chr9:1555181-1555182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557369824	chr9:1555205-1555206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142722600	chr9:1555226-1555227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151010106	chr9:1555246-1555247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553160647	chr9:1555289-1555290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573289132	chr9:1555355-1555356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540784976	chr9:1555363-1555364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560797400	chr9:1555396-1555397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190681870	chr9:1555424-1555425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74308121	chr9:1555425-1555426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565119475	chr9:1555454-1555455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560338878	chr9:1555486-1555487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543350120	chr9:1555498-1555499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563616461	chr9:1555503-1555504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182898475	chr9:1555516-1555517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144610066	chr9:1555532-1555533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187810101	chr9:1555571-1555572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570761102	chr9:1555575-1555576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191785452	chr9:1555596-1555597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528229690	chr9:1555598-1555599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34643269	chr9:1555633-1555634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572371532	chr9:1555648-1555649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548796839	chr9:1555698-1555699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56079141	chr9:1555709-1555710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546096366	chr9:1555726-1555727	Weak transcription	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
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1549400-1558600	Weak transcription	Adipose Nuclei	Adipose
2	chr9:1553200-1555200	Enhancers	Fetal Lung	lung
3	chr9:1558400-1559200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr9:1558600-1558800	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr9:1574600-1575000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:1575400-1576200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:1575800-1576200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:1579800-1580200	Enhancers	GM12878-XiMat	blood
9	chr9:1580200-1580600	Active TSS	GM12878-XiMat	blood
10	chr9:1589000-1589200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:1598600-1600800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:1599200-1600800	Enhancers	Fetal Muscle Leg	muscle
13	chr9:1599800-1602400	Enhancers	Fetal Lung	lung
14	chr9:1600000-1600200	Enhancers	Fetal Kidney	kidney
15	chr9:1600800-1601600	Weak transcription	Fetal Muscle Leg	muscle
16	chr9:1601400-1601600	Enhancers	Fetal Kidney	kidney
17	chr9:1601600-1603000	Enhancers	Fetal Muscle Leg	muscle
18	chr9:1603000-1606400	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:1606400-1608000	Enhancers	Fetal Muscle Leg	muscle
20	chr9:1606600-1608800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:1608000-1608400	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:1608400-1609200	Enhancers	Fetal Muscle Leg	muscle
23	chr9:1612400-1613000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:1612600-1613600	Enhancers	NHEK	skin
25	chr9:1616400-1616600	Bivalent Enhancer	Left Ventricle	heart
26	chr9:1619800-1620000	Enhancers	Brain Substantia Nigra	brain
27	chr9:1619800-1620400	Enhancers	Brain Angular Gyrus	brain
28	chr9:1619800-1620600	Enhancers	Fetal Muscle Leg	muscle
29	chr9:1630000-1630200	Enhancers	Brain Substantia Nigra	brain
30	chr9:1631800-1659000	Weak transcription	Adipose Nuclei	Adipose
31	chr9:1638800-1639800	Enhancers	NHEK	skin
32	chr9:1639000-1639600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:1647400-1648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:1647400-1648400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:1647400-1648800	Enhancers	NHEK	skin
36	chr9:1647800-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:1648200-1648600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:1648200-1648600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:1658000-1658200	Weak transcription	Pancreas	Pancrea
40	chr9:1658200-1658400	Enhancers	Pancreas	Pancrea
41	chr9:1658400-1659600	Weak transcription	Pancreas	Pancrea
42	chr9:1658800-1660200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr9:1659000-1659200	Enhancers	Adipose Nuclei	Adipose
44	chr9:1659000-1659600	Enhancers	Colon Smooth Muscle	Colon
45	chr9:1659400-1660000	Enhancers	Fetal Muscle Leg	muscle
46	chr9:1659600-1660000	Enhancers	Fetal Muscle Trunk	muscle
47	chr9:1659600-1660400	Enhancers	Pancreas	Pancrea
48	chr9:1663800-1665800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:1665800-1666600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:1666600-1667200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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