Variant report

Variant	nsv1030741
Chromosome Location	chr9:11089044-11246257
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:7)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:11216192..11218001-chr9:11219669..11221559,2	K562	blood:
2	chr9:11216192..11218001-chr9:11219669..11221559,2	K562	blood:
3	chr1:210502189..210502757-chr9:11220602..11221102,2	HCT-116	colon:
4	chr9:11115862..11118704-chr9:11119627..11122004,2	MCF-7	breast:
5	chr9:11115862..11118704-chr9:11119627..11122004,2	MCF-7	breast:
6	chr16:12541131..12541857-chr9:11173536..11174397,2	MCF-7	breast:
7	chr9:11064416..11066663-chr9:11091382..11093294,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-2	chr9:11097567-11097597	XLOC_007644
2	lnc-PTPRD-3	chr9:11159533-11159565	XLOC_007645
3	lnc-PTPRD-3	chr9:11194276-11194381	XLOC_007645
4	lnc-PTPRD-3	chr9:11172260-11172372	XLOC_007645
5	lnc-PTPRD-3	chr9:11143876-11144029	XLOC_007645
6	lnc-PTPRD-2	chr9:11108072-11109984	XLOC_007644

No data

Variant related genes	Relation type
ENSG00000054392	chromatin interactions
CSNK1G2	miRNA target sites
CSRNP3	miRNA target sites

Extended variants
information (count: 2406 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2406 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142865372	chr9:11089066-11089067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189545636	chr9:11089076-11089077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376191382	chr9:11089088-11089089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534922454	chr9:11089112-11089113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368919710	chr9:11089117-11089118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75256595	chr9:11089164-11089165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537117940	chr9:11089181-11089182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182162074	chr9:11089220-11089221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557075106	chr9:11089227-11089228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187177203	chr9:11089241-11089242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79860230	chr9:11089263-11089264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371453460	chr9:11089275-11089276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548271639	chr9:11089294-11089295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567491026	chr9:11089304-11089305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545309952	chr9:11089345-11089346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375090383	chr9:11089357-11089358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146985077	chr9:11089400-11089401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555787114	chr9:11089407-11089408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191582685	chr9:11089417-11089418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561216531	chr9:11089435-11089436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574745569	chr9:11089442-11089443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114525950	chr9:11089469-11089470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183572003	chr9:11089478-11089479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10511563	chr9:11089482-11089483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572035714	chr9:11089506-11089507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138076744	chr9:11089520-11089521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537030837	chr9:11089540-11089541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557040377	chr9:11089596-11089597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567201028	chr9:11089654-11089655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540665210	chr9:11089658-11089659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143622271	chr9:11089661-11089662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34421877	chr9:11089692-11089693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73395120	chr9:11089718-11089719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573405782	chr9:11089719-11089720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545224097	chr9:11089729-11089730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558808680	chr9:11089740-11089741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575572510	chr9:11089756-11089757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147494912	chr9:11089789-11089790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561338485	chr9:11089796-11089797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376633278	chr9:11089798-11089799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371230770	chr9:11089838-11089839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540737314	chr9:11089842-11089843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200871381	chr9:11089851-11089852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71332797	chr9:11089853-11089854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398087147	chr9:11089857-11089858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397773503	chr9:11089858-11089859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559256684	chr9:11089889-11089890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71485349	chr9:11089899-11089900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528276205	chr9:11089900-11089901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551638793	chr9:11089904-11089905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
Melanoma	18172304	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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11088600-11089200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr9:11088800-11089200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:11088800-11089600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr9:11089200-11093200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:11093200-11093400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr9:11093200-11093600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:11093200-11094000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:11093600-11097200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr9:11094000-11094200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:11097200-11097600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:11099400-11100000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:11100400-11103800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:11103400-11105000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr9:11103400-11105000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:11103600-11103800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:11103800-11104000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:11103800-11104800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:11104000-11104600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:11104000-11107800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:11106400-11106600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:11106600-11107200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:11106800-11108200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:11107200-11108000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr9:11124200-11124600	Enhancers	Fetal Heart	heart
25	chr9:11127600-11127800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:11127800-11128800	Enhancers	NHEK	skin
27	chr9:11128400-11128600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:11130000-11130200	Enhancers	Fetal Lung	lung
29	chr9:11130200-11130800	Weak transcription	Fetal Lung	lung
30	chr9:11130800-11132000	Enhancers	Fetal Lung	lung
31	chr9:11132000-11136000	Weak transcription	Fetal Lung	lung
32	chr9:11135800-11136200	Enhancers	Fetal Heart	heart
33	chr9:11136000-11136400	Enhancers	Fetal Lung	lung
34	chr9:11136000-11136400	Enhancers	Ovary	ovary
35	chr9:11136000-11136400	Enhancers	Pancreas	Pancrea
36	chr9:11136000-11137000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:11140000-11141000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:11140600-11141000	Enhancers	Brain Hippocampus Middle	brain
39	chr9:11158200-11158400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:11158200-11158400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:11158400-11158800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:11158800-11159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:11159200-11160000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:11181800-11182400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:11194000-11194600	Enhancers	Fetal Brain Male	brain
46	chr9:11194200-11194400	Enhancers	Brain Germinal Matrix	brain
47	chr9:11194200-11195000	Enhancers	Fetal Brain Female	brain
48	chr9:11194400-11195200	Weak transcription	Brain Germinal Matrix	brain
49	chr9:11195200-11196200	Enhancers	Brain Germinal Matrix	brain
50	chr9:11196000-11196800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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