Variant report

Variant	esv3428617
Chromosome Location	chr16:46694569-46694808
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	chr16:46682731..46685856-chr16:46692484..46695135,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHCBP1-2	chr16:46694608-46694865	ENSG00000261131.1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	VPS35	hsa-miR-24-3p	chr16:46694780-46694801
2	VPS35	hsa-miR-590-3p	chr16:46694554-46694575

Variant related genes	Relation type
ENSG00000260909	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559883982	chr16:46694585-46694586	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368663283	chr16:46694586-46694587	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371662558	chr16:46694600-46694601	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181149300	chr16:46694608-46694609	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs1645943	chr16:46694649-46694650	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs568023547	chr16:46694672-46694673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs186258822	chr16:46694695-46694696	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs200622483	chr16:46694719-46694720	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs372099857	chr16:46694732-46694733	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs565732396	chr16:46694746-46694747	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs557977102	chr16:46694750-46694751	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs59019355	chr16:46694751-46694752	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs202068466	chr16:46694752-46694753	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs190723691	chr16:46694781-46694782	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46683200-46696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:46683200-46696600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr16:46684000-46695600	Weak transcription	K562	blood
4	chr16:46684000-46695800	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:46684200-46695800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr16:46684200-46701800	Weak transcription	Psoas Muscle	Psoas
7	chr16:46684400-46695800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:46684600-46695600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr16:46686000-46695600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:46686600-46701800	Weak transcription	Fetal Heart	heart
11	chr16:46688600-46695600	Weak transcription	Fetal Brain Male	brain
12	chr16:46689000-46713600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr16:46689200-46696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:46689200-46715800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:46689600-46697200	Strong transcription	Fetal Muscle Leg	muscle
16	chr16:46689800-46695600	Weak transcription	Fetal Kidney	kidney
17	chr16:46689800-46705400	Weak transcription	Small Intestine	intestine
18	chr16:46689800-46716200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:46690000-46695800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:46690000-46701200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr16:46690400-46716200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:46690600-46697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:46690600-46700600	Strong transcription	Fetal Stomach	stomach
24	chr16:46691000-46695000	Strong transcription	Left Ventricle	heart
25	chr16:46691000-46697200	Strong transcription	Primary T cells from cord blood	blood
26	chr16:46691000-46697200	Strong transcription	A549	lung
27	chr16:46691000-46701600	Strong transcription	Fetal Brain Female	brain
28	chr16:46691000-46701800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:46691000-46702000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr16:46691000-46704000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:46691000-46705800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:46691000-46714800	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr16:46691000-46715000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr16:46691000-46715600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:46691000-46716200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr16:46691000-46716800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:46691000-46718000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:46691200-46694800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr16:46691200-46698400	Strong transcription	Osteobl	bone
40	chr16:46691200-46699200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:46691200-46699600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:46691200-46701800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:46691200-46705800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr16:46691200-46714800	Strong transcription	Liver	Liver
45	chr16:46691200-46716200	Strong transcription	Adipose Nuclei	Adipose
46	chr16:46691200-46716400	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr16:46691200-46716800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:46691200-46717000	Strong transcription	Dnd41	blood
49	chr16:46691200-46717400	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr16:46691400-46697000	Strong transcription	HUVEC	blood vessel

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