Variant report

Variant	nsv892046
Chromosome Location	chr9:1881124-1965945
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:4)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:39715375..39715923-chr9:1928519..1929019,2	HCT-116	colon:
2	chr9:1928679..1931491-chr9:2015139..2017174,2	K562	blood:
3	chr9:1878195..1880083-chr9:1882039..1884162,2	MCF-7	breast:
4	chr9:1941734..1942417-chr9:2087486..2088282,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCA2-1	chr9:1930115-1930258	NONHSAT129979
2	lnc-KIAA0020-9	chr9:1918638-1918715	NONHSAT129978
3	lnc-KIAA0020-9	chr9:1917165-1917394	NONHSAT129978
4	lnc-KIAA0020-9	chr9:1924954-1925274	NONHSAT129978
5	lnc-KIAA0020-9	chr9:1917493-1917749	NONHSAT129978
6	lnc-SMARCA2-1	chr9:1929260-1929331	NONHSAT129979
7	lnc-SMARCA2-1	chr9:1928392-1928689	NONHSAT129979
8	lnc-KIAA0020-9	chr9:1925288-1927453	NONHSAT129978
9	lnc-SMARCA2-2	chr9:1929409-1929562	XLOC_007264
10	lnc-SMARCA2-1	chr9:1925411-1927453	NONHSAT129979
11	lnc-KIAA0020-9	chr9:1930113-1930463	NONHSAT129978
12	lnc-KIAA0020-9	chr9:1929260-1929331	NONHSAT129978
13	lnc-KIAA0020-9	chr9:1930484-1930573	NONHSAT129978

No data

Variant related genes	Relation type
ENSG00000100316	chromatin interactions
ENSG00000080503	chromatin interactions

Extended variants
information (count: 3293 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:3293 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12341197	chr9:1881124-1881125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2094943	chr9:1881139-1881140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs139799076	chr9:1881149-1881150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143184884	chr9:1881152-1881153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13288571	chr9:1881155-1881156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557774322	chr9:1881199-1881200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550065597	chr9:1881200-1881201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56084824	chr9:1881239-1881240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534529120	chr9:1881254-1881255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145843996	chr9:1881256-1881257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574294971	chr9:1881281-1881282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543098901	chr9:1881322-1881323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567784323	chr9:1881373-1881374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576684419	chr9:1881375-1881376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538981599	chr9:1881389-1881390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372128499	chr9:1881399-1881400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148586040	chr9:1881410-1881411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79248960	chr9:1881411-1881412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190466483	chr9:1881427-1881428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182542540	chr9:1881432-1881433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2104837	chr9:1881484-1881485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2104838	chr9:1881530-1881531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2104839	chr9:1881531-1881532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142998699	chr9:1881602-1881603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568601892	chr9:1881670-1881671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72683720	chr9:1881679-1881680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551061518	chr9:1881681-1881682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115513725	chr9:1881702-1881703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534187442	chr9:1881705-1881706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554452210	chr9:1881709-1881710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549545559	chr9:1881748-1881749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577987700	chr9:1881771-1881772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71490204	chr9:1881773-1881774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559166943	chr9:1881778-1881779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536833340	chr9:1881779-1881780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373868425	chr9:1881788-1881789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151086603	chr9:1881793-1881794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115394266	chr9:1881795-1881796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368842342	chr9:1881806-1881807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545503498	chr9:1881869-1881870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142573181	chr9:1881870-1881871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572411878	chr9:1881892-1881893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146505327	chr9:1881921-1881922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560010537	chr9:1881949-1881950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573638240	chr9:1881990-1881991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147908945	chr9:1882004-1882005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562369943	chr9:1882009-1882010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531275244	chr9:1882015-1882016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62534178	chr9:1882125-1882126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564680239	chr9:1882139-1882140	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1880000-1883800	Enhancers	Placenta	Placenta
2	chr9:1881000-1882400	Enhancers	GM12878-XiMat	blood
3	chr9:1882400-1883600	ZNF genes & repeats	GM12878-XiMat	blood
4	chr9:1882600-1883200	Enhancers	Adipose Nuclei	Adipose
5	chr9:1883400-1883800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr9:1890000-1890600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:1890200-1890600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:1897400-1897800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:1897400-1897800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:1904600-1904800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:1904800-1916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:1905800-1910400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:1906200-1907200	ZNF genes & repeats	GM12878-XiMat	blood
14	chr9:1907200-1907400	Genic enhancers	GM12878-XiMat	blood
15	chr9:1907400-1907800	Enhancers	GM12878-XiMat	blood
16	chr9:1907800-1910200	Weak transcription	GM12878-XiMat	blood
17	chr9:1910200-1910800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr9:1910200-1911400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:1910200-1911400	Enhancers	GM12878-XiMat	blood
20	chr9:1910400-1910600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:1910400-1910800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:1911400-1911600	Weak transcription	GM12878-XiMat	blood
23	chr9:1911600-1914600	ZNF genes & repeats	GM12878-XiMat	blood
24	chr9:1912800-1914200	Enhancers	Fetal Brain Female	brain
25	chr9:1912800-1914400	Enhancers	Brain Germinal Matrix	brain
26	chr9:1913200-1914200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:1913200-1920800	Enhancers	Fetal Brain Male	brain
28	chr9:1913600-1915000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:1914200-1914400	Enhancers	HepG2	liver
30	chr9:1914200-1916000	Weak transcription	Fetal Brain Female	brain
31	chr9:1914200-1916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:1914400-1915400	Weak transcription	Brain Germinal Matrix	brain
33	chr9:1915000-1915800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:1915400-1916400	Enhancers	Brain Germinal Matrix	brain
35	chr9:1915600-1915800	Active TSS	Hela-S3	cervix
36	chr9:1915600-1915800	Enhancers	HepG2	liver
37	chr9:1915800-1916000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:1915800-1916000	Flanking Active TSS	Hela-S3	cervix
39	chr9:1915800-1916000	Bivalent Enhancer	HepG2	liver
40	chr9:1915800-1916200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:1915800-1916200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:1915800-1916200	Active TSS	Dnd41	blood
43	chr9:1915800-1916400	Active TSS	Duodenum Mucosa	Duodenum
44	chr9:1915800-1916400	Active TSS	NHEK	skin
45	chr9:1915800-1916600	Bivalent/Poised TSS	Liver	Liver
46	chr9:1915800-1916600	Active TSS	Osteobl	bone
47	chr9:1915800-1916800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:1915800-1916800	Active TSS	A549	lung
49	chr9:1915800-1917200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:1915800-1917200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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