Variant report

Variant	nsv613134
Chromosome Location	chr9:2424322-2466509
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
2	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
3	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2425393-2425545	ENSG00000236404
2	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404
3	lnc-KIAA0020-1	chr9:2423860-2427978	NONHSAT129995
4	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404.4
5	lnc-KIAA0020-1	chr9:2425397-2425540	ENSG00000236404.4
6	lnc-VLDLR-2	chr9:2429811-2429986	XLOC_007266

No data

Extended variants
information (count: 2119 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2119 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1002518	chr9:2424322-2424323	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377268562	chr9:2424329-2424330	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs570492502	chr9:2424359-2424360	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs185815261	chr9:2424384-2424385	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs565505020	chr9:2424385-2424386	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs117052740	chr9:2424406-2424407	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554941148	chr9:2424411-2424412	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs568669966	chr9:2424426-2424427	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs140484422	chr9:2424445-2424446	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs534205935	chr9:2424461-2424462	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs557082937	chr9:2424470-2424471	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs554380925	chr9:2424496-2424497	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs79175512	chr9:2424535-2424536	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs151219506	chr9:2424538-2424539	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs369872383	chr9:2424580-2424581	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs573128792	chr9:2424592-2424593	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs140398195	chr9:2424640-2424641	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs574612818	chr9:2424703-2424704	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs561010785	chr9:2424715-2424716	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs76121067	chr9:2424732-2424733	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs10966247	chr9:2424746-2424747	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372137781	chr9:2424754-2424755	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs563432097	chr9:2424804-2424805	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs532258767	chr9:2424806-2424807	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs551956568	chr9:2424823-2424824	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs565695506	chr9:2424836-2424837	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs192005555	chr9:2424840-2424841	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs538788267	chr9:2424851-2424852	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs548901835	chr9:2424897-2424898	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs577321518	chr9:2424931-2424932	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs568407965	chr9:2424965-2424966	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs181797755	chr9:2424972-2424973	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs187236131	chr9:2424983-2424984	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs138045311	chr9:2425007-2425008	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs546078929	chr9:2425052-2425053	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs553170901	chr9:2425060-2425061	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs560245709	chr9:2425066-2425067	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs191987990	chr9:2425108-2425109	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs573224042	chr9:2425109-2425110	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs182098340	chr9:2425117-2425118	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs527725368	chr9:2425121-2425122	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs10966249	chr9:2425127-2425128	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs16906111	chr9:2425146-2425147	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs12338672	chr9:2425148-2425149	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs16906117	chr9:2425166-2425167	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10491709	chr9:2425186-2425187	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186966095	chr9:2425188-2425189	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs143488720	chr9:2425222-2425223	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs190205193	chr9:2425232-2425233	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs373025764	chr9:2425233-2425234	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
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
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Chordoma	21215367	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2415200-2426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:2416000-2424400	Weak transcription	Pancreas	Pancrea
3	chr9:2417400-2429600	Weak transcription	Aorta	Aorta
4	chr9:2419000-2426000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr9:2419000-2426800	Weak transcription	Brain Germinal Matrix	brain
6	chr9:2419000-2427200	Weak transcription	Adipose Nuclei	Adipose
7	chr9:2419200-2424400	Weak transcription	Right Atrium	heart
8	chr9:2419200-2424600	Weak transcription	Left Ventricle	heart
9	chr9:2419200-2426000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:2420400-2425000	Weak transcription	Fetal Brain Male	brain
11	chr9:2421000-2424600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:2421000-2424600	Weak transcription	Spleen	Spleen
13	chr9:2421200-2427200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr9:2423400-2426200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:2423600-2426200	Weak transcription	Liver	Liver
16	chr9:2424000-2427800	Enhancers	Ovary	ovary
17	chr9:2424200-2425000	Enhancers	HSMMtube	muscle
18	chr9:2424200-2425200	Enhancers	Fetal Kidney	kidney
19	chr9:2424200-2425600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:2424200-2426600	Enhancers	Fetal Lung	lung
21	chr9:2424400-2424600	Weak transcription	Gastric	stomach
22	chr9:2424400-2424600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr9:2424400-2424600	Enhancers	Stomach Mucosa	stomach
24	chr9:2424400-2424800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:2424400-2424800	Enhancers	Right Atrium	heart
26	chr9:2424400-2425000	Enhancers	Pancreas	Pancrea
27	chr9:2424400-2425200	Enhancers	Esophagus	oesophagus
28	chr9:2424600-2424800	Enhancers	Gastric	stomach
29	chr9:2424600-2425000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:2424600-2425000	Enhancers	Left Ventricle	heart
31	chr9:2424600-2425000	Enhancers	Spleen	Spleen
32	chr9:2424800-2430200	Weak transcription	Gastric	stomach
33	chr9:2425000-2426000	Weak transcription	Pancreas	Pancrea
34	chr9:2425000-2426800	Weak transcription	Spleen	Spleen
35	chr9:2425000-2427200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:2425000-2427400	Weak transcription	Left Ventricle	heart
37	chr9:2425200-2426800	Weak transcription	Esophagus	oesophagus
38	chr9:2425600-2426800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:2426000-2426200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr9:2426000-2426400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:2426000-2426600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:2426000-2428200	Enhancers	Pancreas	Pancrea
43	chr9:2426200-2426600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr9:2426200-2426800	Enhancers	Liver	Liver
45	chr9:2426200-2427000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr9:2426600-2427800	Weak transcription	Fetal Lung	lung
47	chr9:2426600-2428600	Enhancers	Placenta Amnion	Placenta Amnion
48	chr9:2426800-2427600	Enhancers	Esophagus	oesophagus
49	chr9:2426800-2427600	Enhancers	Right Ventricle	heart
50	chr9:2426800-2427600	Enhancers	Spleen	Spleen

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