Variant report

Variant	nsv613137
Chromosome Location	chr9:2647760-2650572
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:2642588..2644661-chr9:2646900..2649864,2	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	VLDLR	hsa-miR-130b-3p	chr9:2648316-2648335

Extended variants
information (count: 141 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6475888	chr9:2647760-2647761	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193224283	chr9:2647776-2647777	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529836524	chr9:2647821-2647822	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147655203	chr9:2647832-2647833	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569872877	chr9:2647833-2647834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532436493	chr9:2647848-2647849	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551488297	chr9:2647851-2647852	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552234420	chr9:2647854-2647855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541256950	chr9:2647857-2647858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376047276	chr9:2647882-2647883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571601710	chr9:2647891-2647892	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113580260	chr9:2647934-2647935	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147000754	chr9:2647948-2647949	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567375946	chr9:2647976-2647977	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184925354	chr9:2647977-2647978	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75707740	chr9:2648028-2648029	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186632435	chr9:2648068-2648069	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571265421	chr9:2648072-2648073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370283539	chr9:2648078-2648079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142304962	chr9:2648088-2648089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35102749	chr9:2648089-2648090	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374672025	chr9:2648102-2648103	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572713103	chr9:2648116-2648117	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374191330	chr9:2648173-2648174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368906793	chr9:2648176-2648177	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73640153	chr9:2648177-2648178	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35948251	chr9:2648223-2648224	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114329139	chr9:2648237-2648238	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200112781	chr9:2648257-2648258	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200494587	chr9:2648278-2648279	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35339834	chr9:2648286-2648287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144842116	chr9:2648314-2648315	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116047052	chr9:2648333-2648334	Strong transcription Weak transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
34	rs200297150	chr9:2648357-2648358	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369572929	chr9:2648376-2648377	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373731010	chr9:2648377-2648378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376689869	chr9:2648390-2648391	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138612873	chr9:2648464-2648465	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552366903	chr9:2648496-2648497	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35485885	chr9:2648497-2648498	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528390255	chr9:2648523-2648524	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35633088	chr9:2648538-2648539	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs367870968	chr9:2648689-2648690	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201696336	chr9:2648709-2648710	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369070069	chr9:2648712-2648713	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149002489	chr9:2648724-2648725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79720897	chr9:2648747-2648748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150930909	chr9:2648754-2648755	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377125154	chr9:2648764-2648765	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6148	chr9:2648773-2648774	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:103)

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
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
Ovarian cancer	22355333	CNVD
Schizophrenia	20967226	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2627200-2648400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:2633600-2656600	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:2634400-2648200	Weak transcription	Placenta	Placenta
4	chr9:2635000-2652600	Strong transcription	Dnd41	blood
5	chr9:2635200-2655000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:2635200-2656200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:2635400-2656000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:2635400-2656800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:2635400-2656800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:2635600-2655000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr9:2635800-2656000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:2635800-2657800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:2637400-2654400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:2638000-2654400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:2638000-2656400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr9:2638400-2655800	Strong transcription	Fetal Lung	lung
17	chr9:2638400-2656400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:2638600-2653600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr9:2638600-2655400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:2638600-2655800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr9:2638800-2656000	Strong transcription	Fetal Muscle Leg	muscle
22	chr9:2639000-2650800	Weak transcription	HSMM	muscle
23	chr9:2639000-2655800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr9:2639200-2655200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:2639600-2654800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:2639800-2654200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:2639800-2655200	Strong transcription	Brain Cingulate Gyrus	brain
28	chr9:2639800-2656000	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr9:2639800-2656000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:2640000-2650800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:2640000-2655000	Strong transcription	Left Ventricle	heart
32	chr9:2640000-2655600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr9:2640000-2655600	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:2640000-2662200	Weak transcription	Right Atrium	heart
35	chr9:2640200-2653800	Strong transcription	Brain Anterior Caudate	brain
36	chr9:2640200-2654200	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr9:2640200-2655400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:2640200-2656200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:2640800-2655800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:2640800-2655800	Strong transcription	Adipose Nuclei	Adipose
41	chr9:2641000-2653800	Weak transcription	HepG2	liver
42	chr9:2641000-2655600	Strong transcription	Brain Hippocampus Middle	brain
43	chr9:2641200-2654000	Strong transcription	Fetal Kidney	kidney
44	chr9:2641400-2655600	Strong transcription	Fetal Brain Female	brain
45	chr9:2641400-2668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:2641600-2654800	Weak transcription	NHDF-Ad	bronchial
47	chr9:2642000-2654800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:2642000-2655600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr9:2642200-2649200	Weak transcription	Stomach Mucosa	stomach
50	chr9:2642200-2653800	Strong transcription	A549	lung

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